Research and Faculty

Coming together from diverse backgrounds to advance mammalian genetics and human genomics research.

Name Last Name Location Research Summary 2nd Research Area Research Area Lab Affiliation Job Title

Mark Adams, Ph.D.

Professor and Director, Microbial Genomic Services

Farmington, CT

    860-837-2319

    Adams Mark Adams, Ph.D. Farmington, CT
    Development and application of approaches for human and mouse microbiome analysis and genomic analysis of the evolution of Gram-negative pathogens.
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    Dr. Adams comes from a rich background including industry, government, academic, and nonprofit settings. Throughout, he has focused on applying leading edge genomic and bioinformatic approaches to a variety of research problems in biology.

    As one of the founding scientists at TIGR, Dr. Adams contributed extensively to the first genome sequence of a free-living organism, Haemophilus influenzae, and other microbial genomes. A co-founder of Celera Genomics, he led the DNA sequencing and genome annotation groups. He directed the Drosophila, human, and mouse genome sequencing projects, and a large-scale re-sequencing program to identify novel SNPs in humans.

    From 2003-2011, Dr. Adams was Associate Professor of Genetics at Case Western Reserve University where he developed a research program in the evolution and mechanisms of antibiotic resistance in the nosocomial pathogen Acinetobacter baumannii. He also served as Director of the Genomics Core facility.

    From 2011-2016, Dr. Adams was the Scientific Director and Professor at the J. Craig Venter Institute. There he directed programs that characterized genomic changes in the evolution of antibiotic resistance in hospital-acquired infections.

    Dr. Adams received a B.A. in Chemistry from Warren Wilson College in Swannanoa, NC and a Ph.D. in Biological Chemistry from the University of Michigan.

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    Genetics and Genomics|Infectious Disease Research Genetics and Genomics|Infectious Disease Research Director|Professor
    Anczuków-Camarda Olga Anczuków-Camarda, Ph.D. Farmington, CT
    Investigates how RNA splicing contributes to breast and ovarian cancer progression, metastasis and drug-resistance.
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    My research goal is to elucidate how changes in gene expression regulation contribute to cancer. My lab focuses on characterizing the role of alternative-splicing misregulation in breast and ovarian cancer by using 3D cell culture and PDX models. Our unique expertise in both RNA biology and cancer research allows us to connect these distinct fields, and by combining innovative tools and interdisciplinary approaches, to gain novel insights into the molecular mechanism of gene expression regulation in normal and cancer cells. My research findings should lead to the development of novel biomarkers and promising drugs for cancer therapy.

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    Cancer|Genetics and Genomics Cancer|Genetics and Genomics The Anczukow Lab Assistant Professor
    Baker Christopher L. Baker, Ph.D. Bar Harbor, ME
    Conducting research to understand the genetic and molecular regulatory system controlling the location and rate of meiotic recombination.
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    My overall objective is to understand the genetic and molecular regulatory system controlling the location and rate of meiotic recombination, the process that generates new genetic variation in sexually reproducing organisms. Ever since my early exposure to the power of artificial selection in agriculture while working on a vegetable farm in Vermont, I have been curious about the connection between phenotypic and genotypic variation. Genetic recombination is also critical to the successful completion of meiosis, that when aberrant, impacts human fertility and health. However, little is known about the molecular components of the system controlling where recombination occurs. I use genetic, genomic and molecular biology strategies to identify genes regulating the rate at which meiotic hotspots, the physical sites of DNA recombination, are activated. The Paigen lab is one of several groups that recently discovered one such gene, Prdm9, which controls the position of recombination sites in mice and humans.

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    Genetics and Genomics Genetics and Genomics The Baker Lab Assistant Professor
    Banchereau Jacques Banchereau, Ph.D. Farmington, CT
    Uses genomic tools to characterize human immunity in both healthy and disease states.
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    The human immune system is a double-edged sword: essential for maintaining health yet often itself the cause of disease. Understanding how this delicate balance is maintained requires a thorough understanding of its components and its responses to environmental factors. My laboratory is leveraging modern genomic tools to characterize the human immune system in both healthy and disease states. How the immune system deteriorates as part of aging and how the immune system of a mother reacts to the graft of a foreign embryo represent new areas of investigation. Our approach includes the development of humanized mouse models of human diseases. Our goal is to enable the future development of novel therapies for a range of serious illnesses.

    Immune Disorders|Genetics and Genomics|Aging|Cancer Immune Disorders|Genetics and Genomics|Aging|Cancer The Banchereau Lab Professor
    Beck Christine Beck, Ph.D. Farmington, CT
    Investigating the mechanisms and consequences of repetitive element-mediated genomic rearrangements.
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    The mechanisms governing non-recurrent human structural variation (SV) are diverse and often poorly understood. I am investigating how human DNA maintains fidelity in the context of a repetitive genome. Human Alu elements number over one million copies per human genome, and recent studies have found that these repeat sequences often mediate SVs in some loci. Through computational, molecular biological and genomic techniques, we will identify regions susceptible to this form of SV and investigate the enzymes that limit or promote Alu-mediated rearrangements. These lines of inquiry could find regions prone to instability in human cancers and lead to targets for therapy.

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    Cancer|Computational Biology|Genetics and Genomics Cancer|Computational Biology|Genetics and Genomics The Beck Lab Assistant Professor
    Blake Judith Blake, Ph.D. Bar Harbor, ME
    Researches functional and comparative genome informatics, developing systems to integrate and analyze genetic, genomic and phenotypic data.
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    My research focuses on functional and comparative genome informatics. I work on the development of systems to integrate and analyze genetic, genomic and phenotypic information. I am one of the principal investigators of the Gene Ontology (GO) Consortium, an international effort to provide controlled structured vocabularies for molecular biology that serve as terminologies, classifications and ontologies to further data integration, analysis and reasoning. My interest in bio-ontologies stems as well from the work I do as a principal investigator with the Mouse Genome Informatics (MGI) project at The Jackson Laboratory. The MGI system is a model-organism community database resource that provides integrated information about the genetics, genomics and phenotypes of the laboratory mouse. My current research projects combine bio-ontologies and database knowledge systems to analyze disease processes with the objective of discovering new molecular elements and pathways that contribute to particular pathologies such as respiratory diseases. 

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    Genetics and Genomics|Computational Biology|Bioinformatics|Resource Development and Dissemination Genetics and Genomics|Computational Biology|Bioinformatics|Resource Development and Dissemination The Blake Lab Professor
    Bolcun-Filas Ewelina Bolcun-Filas, Ph.D. Bar Harbor, ME
    Researching meiosis, the mechanisms of DNA damage detection and repair during normal development of gametes, and implications for fertility of cancer patients after radiation and chemotherapy.
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    Germ cells are the only cell type that must endure extensive DNA damage in the form of programmed meiotic double-strand breaks (DSBs) during their normal development. Paradoxically, the absence of DSBs during meiosis as well as persisting unrepaired breaks are detrimental and typically result in meiotic arrest and infertility. Our research aims to understand the molecular mechanisms controlling the development of healthy gametes and how misregulation of these mechanisms can lead to reproductive disorders. In particular, we are interested in meiotic “quality checkpoints” operating in germ cells, which ensure that the correct and intact genetic information is transmitted to the next generation. The same checkpoint that monitors DSB repair during meiosis is responsible for high sensitivity of oocytes to cancer treatment. Chemo and radiation therapies can cause oocyte death and lead to premature ovarian failure and infertility. Disabling the key checkpoint kinase CHK2 preserved fertility in mice exposed to ionizing radiation, thus opening a new avenue for oncofertility research. Our goal is to further dissect the DNA damage response pathway in oocytes, helping identify additional targets for fertility preservation therapies in cancer patients.

    Genetics and Genomics|Developmental Disorders|Reproductive Disorders Genetics and Genomics|Developmental Disorders|Reproductive Disorders The Bolcun-Filas Lab Assistant Professor

    Robert E. Braun, Ph.D.

    Senior Scientific Advisor to the President/CEO and Janeway Distinguished Chair and Professor of Mammalian Genetics

    Bar Harbor, ME

    207-288-6841

    Braun Robert E. Braun, Ph.D. Bar Harbor, ME
    Conducts research to better understand the mechanisms that regulate germline stem cell fate.
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    Geneticists measure time in generations and celebrate immortality with reproductive success. My lab is driven by a passion to understand the cell biological basis of gamete (sperm and egg) development. We study how germline stem cells balance self-renewal with differentiation. Stem cell self-renewal at the expense of differentiation can cause germ cell tumors while differentiation at the expense of self-renewal can cause sterility. Our long-term goal is to understand the mechanisms that regulate germline stem cell fate. Other research interests include understanding the molecular function of the hormone testosterone in spermatogenesis. Our work has revealed that specialized tight junctions between Sertoli cells, which are integral to the blood/testis barrier, are regulated by testosterone. We are studying how germ cells pass through these tight junctions without compromising barrier function. We are also investigating molecular mechanisms of translational regulation—a major form of gene regulation in both male and female germ cells—during spermatogenesis. We use both forward and reverse genetics to identify the genes involved. Phenotypic analysis includes microscopy, biochemistry and cell physiology.

    Developmental Disorders|Reproductive Disorders|Genetics and Genomics Developmental Disorders|Reproductive Disorders|Genetics and Genomics The Braun Lab Professor
    Bult Carol Bult, Ph.D. Bar Harbor, ME
    Bridges the digital biology divide, by integrating computation and informatics with biomedical research.
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    The primary theme of my personal research program is “bridging the digital biology divide,” reflecting the critical role that informatics and computational biology play in modern biomedical research. I am a Principal Investigator in the Mouse Genome Informatics (MGI) consortium that develops knowledgebases to advance the laboratory mouse as a model system for research into the genetic and genomic basis of human biology and disease (http://www.informatics.jax.org). Recent research initiatives in my research group include computational prediction of gene function in the mouse and the use of the mouse to understand genetic pathways in normal lung development and disease.

    My institutional responsibilities at The Jackson Laboratory include serving as the Deputy Director of the Cancer Center and as the Scientific Director of our Patient Derived Xenograft (PDX) and Cancer Avatar program. The PDX program is a resource of deeply characterized and well-annotated "human in mouse" cancer models with a focus on bladder, lung, colon, breast and pediatric cancer. This resource is a powerful platform for research into basic cancer biology (such as tumor heterogeneity and evolution) as well as for translational research into mechanisms of therapy resistance and therapeutic strategies to overcome resistance.

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    Complex Traits|Cancer|Genetics and Genomics|Bioinformatics Complex Traits|Cancer|Genetics and Genomics|Bioinformatics The Bult Lab Professor
    Burgess Robert Burgess, Ph.D. Bar Harbor, ME
    Studies the molecular mechanisms of synapse formation, development and maintenance in peripheral neuromuscular junctions and retina.
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    The Burgess lab seeks to understand the molecular mechanisms of synapse formation and maintenance at two sites in the nervous system: the peripheral neuromuscular junction and the retina. In all of these studies, we are addressing basic molecular mechanisms, but these basic mechanisms have relevance to human neuromuscular and neurodevelopmental disorders. Our continued research on the genetics underlying these disorders, and our continuing effort to identify new genes involved in these processes, will increase our understanding of the molecules required to form and maintain synaptic connectivity in the nervous system.

    Genetics and Genomics|Developmental Disorders|Neurodegenerative and Neuromuscular Diseases Genetics and Genomics|Developmental Disorders|Neurodegenerative and Neuromuscular Diseases The Burgess Lab Professor
    Carter Gregory Carter, Ph.D. Bar Harbor, ME
    Develops computational strategies using genetic data to understand complex genetic systems involving multiple genes and environmental factors.
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    Contemporary technologies such as high-throughput genome sequencing now enable the measurement of biological systems with unprecedented scale, power and precision, creating the opportunity to decipher the genetics that underlie human diseases. The overall goal of our laboratory is to develop novel computational strategies that use these data to understand complex genetic systems in which multiple genes and environmental factors combine to affect biological outcomes. These methods aim to map complex genetic architecture and infer models that predict the outcomes of genetic and environmental variation. We derive network models of interacting genes, integrate disparate phenotypic and molecular data types, critically evaluate models with experimental tests, and seek to understand how biological information is encoded in genetic networks and genomic data.

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    Complex Traits|Computational Biology|Genetics and Genomics|Neurodegenerative and Neuromuscular Diseases Complex Traits|Computational Biology|Genetics and Genomics|Neurodegenerative and Neuromuscular Diseases The Carter Lab Associate Professor
    Chang Bo Chang, Ph.D. Bar Harbor, ME
    Conducts research to identify, characterize, and distribute mice with genetically caused eye disorders, including retinitis pigmentosa and achromatopsia.
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    In humans, vision is paramount for quality of life, and the impairment of sight represents a highly incapacitating condition. Vision loss or dysfunction can be caused by obstruction of the light path to the neural retina or inability of the retina to detect and/or transmit light-triggered signals to the brain. Mouse models provide fundamental insights into the associated biological pathways and often display phenotypes that are similar to clinical manifestations of the corresponding disease in humans, providing an opportunity to decipher mechanisms of disease pathology as well as develop innovative therapies. The main objective of our research program is to identify, characterize,preserve and distribute mice with genetically caused ocular disorders. These well-characterized models are used to support and promote vision research with the ultimate goal of advancing the elucidation, treatment and cure of heritable eye diseases. We have recently characterized mutations that may provide models for retinal degeneration diseases, including retinitis pigmentosa, a group of eye diseases that lead to progressive vision loss and eventual blindness, and for human achromatopsia, a key feature of which is the absence of color discrimination. Our laboratory is also studying the genetic defects in models for glaucoma, cataracts and photoreceptor function loss.

    Eye Research|Genetics and Genomics|Resource Development and Dissemination|Neurodegenerative and Neuromuscular Diseases Eye Research|Genetics and Genomics|Resource Development and Dissemination|Neurodegenerative and Neuromuscular Diseases The Nishina Lab Senior Research Scientist
    Chang Chih-Hao "Lucas" Chang, Ph.D. Bar Harbor, ME
    We love to study metabolic events in immune cells and tissue microenvironments that govern their immune function and contribute to disease outcomes.
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    Metabolism is a set of biochemical transformations, which remains the single most fundamental force driving cell fate and sustaining life. Our lab is particularly interested in understanding the cellular and molecular mechanisms that control immune cell behavior during disease development. Our investigation is currently focused on elucidating the metabolic events involved in T cell reprogramming in tumor microenvironment. Our research lies at the intersection of immunology, metabolism, microbiology, oncology, pharmacology, and bioinformatics. Ultimately, our goal is to provide detailed mechanistic understanding of metabolic interplay between immune cells and diseased tissues, which will offer novel strategies for vaccines, drug development, disease prognosis, and immunotherapy.

    Cancer|Immune Disorders|Infectious Disease Research|Genetics and Genomics Cancer|Immune Disorders|Infectious Disease Research|Genetics and Genomics Assistant Professor
    Cheng Albert Cheng, Ph.D. Farmington, CT
    Engineers and applies artificial DNA and RNA binding proteins to study the genome, epigenome, and transcriptome.
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    Albert Cheng obtained his BSc in Biochemistry and MPhil in Biology from Hong Kong University of Science and Technology in 2005 and 2007, respectively. He studied neurotrophin signaling and C. elegans developmental genetics. He then pursued his PhD in Computational & Systems Biology at MIT in the labs of Profs Christopher Burge and Rudolf Jaenisch and worked on various topics on epigenetics, gene regulation and alternative splicing in stem cells, reprogramming, cancer metastasis, erythropoiesis and differentiation. Cheng and colleagues identified H3K27ac as a signature for active enhancers. He analyzed alternative splicing in epithetlial-mesenchymal transition, cancer metastasis as well as erythropoiesis and identified splicing factors regulating these processes. He constructed CRISPR-on, an artificial RNA-guided activator based on CRISPR/Cas. After graduating in 2014, he joined the Jackson Laboratory at Bar Harbor, ME, as one of the first JAX scholars where he continued to work on understanding and improving the CRISPR/Cas technology. In July 2015, he started his own lab as an assistant professor at the Jackson Laboratory for Genomic Medicine campus at Farmington, CT.

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    Genetics and Genomics|Bioinformatics|Computational Biology|Cancer Genetics and Genomics|Bioinformatics|Computational Biology|Cancer The Cheng Lab Assistant Professor
    Chesler Elissa J. Chesler, Ph.D. Bar Harbor, ME
    Researches the genetics underlying behavior and identifies the biological basis for relationships among behavioral traits.
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    My laboratory integrates quantitative genetics, bioinformatics and behavioral science to understand and identify the biological basis for the relationships among behavioral traits. We develop and apply cross-species genomic data integration, advanced computing methods, and novel high-precision, high-diversity mouse populations to find genes associated with a constellation of behavioral disorders and other complex traits. This integrative strategy enables us to relate mouse behavior to specific aspects of human disorders, to test the validity of behavioral classification schemes, and to find genes and genetic variants that influence behavior.

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    Genetics and Genomics|Behavioral Disorders|Bioinformatics|Complex Traits Genetics and Genomics|Behavioral Disorders|Bioinformatics|Complex Traits The Chesler Lab Professor
    Chuang Jeffrey Chuang, Ph.D. Farmington, CT
    Employs computational and mathematical approaches to analyze large genomic data sets to understand genome function and uncover clinical relevance.
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    Advances in sequencing have radically transformed the scale and nature of genetic studies. These have made it possible to analyze genomic changes across species, individuals, and single cells as mutations accrue and are subject to selection. Diverse phenotypic datasets have also grown rapidly, not only for sequencing-based assays such as gene expression and protein-nucleic acid interactions, but also other types including clinical and drug-screening investigations. My lab develops computational and mathematical approaches to understand how genomes function and evolve in order to make these findings clinically relevant. We use techniques from a variety of disciplines, including data science, evolutionary modeling, and biophysics. We are currently focused on two major areas: 1) Computational Approaches for Cancer Genomics, and 2) Gene Regulation. Our projects involve collaborations with experimental and computational colleagues at JAX Genomic Medicine, JAX Mammalian Genetics, and multiple outside groups.

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    Computational Biology|Cancer|Genetics and Genomics|Neurodegenerative and Neuromuscular Diseases Computational Biology|Cancer|Genetics and Genomics|Neurodegenerative and Neuromuscular Diseases The Chuang Lab Associate Professor
    Churchill Gary Churchill, Ph.D. Bar Harbor, ME
    Employs a systems approach to investigate the genetics of health and disease and complex disease-related traits in the mouse.
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    Our lab is actively applying a systems approach to study the genetics of health and disease, incorporating new statistical methods for the investigation of complex disease-related traits in the mouse. We employ a combination of strategies to investigate the genetic basis of these complex traits. We are developing new methods and software that will improve the power of quantitative trait loci mapping and microarray analysis, as well as graphical models that aim to intuitively and precisely characterize the genetic architecture of disease.

    Within the Center for Genome Dynamics, we are part of a consortium of investigators with a shared interest in a holistic approach to understanding genetics from an evolutionary perspective. With an eye on the future of mouse genetics, we are also establishing two new mouse resources for complex trait analysis: the Collaborative  Cross and the Diversity Outbred.

    Complex Traits|Genetics and Genomics|Computational Biology|Aging Complex Traits|Genetics and Genomics|Computational Biology|Aging The Churchill Lab Professor
    Cox Greg Cox, Ph.D. Bar Harbor, ME
    Studies the genetics of degenerative muscle diseases using mouse models for SMA, ALS, muscular dystrophy and more.
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    Our lab uses mouse models to identify the molecular pathways underlying degenerative motor neuron diseases in humans, such as spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig's disease). We cloned the gene for neuromuscular degeneration in a mouse model for a lethal infantile form of SMA known as spinal muscular atrophy with respiratory distress. In addition, we are studying genetic background effects on onset and progression of ALS symptoms in the mouse model in hopes that these will provide novel targets for therapy.

    We are also studying mice with degenerative muscle diseases that are models for specific forms of muscular dystrophy in humans. We cloned a genetic defect and have localized the mutation to the muscle-specific titin gene, the largest known coding gene in the mammalian genome. The mouse strain is a novel model of progressive muscular dystrophy. We also identified the mutation for a new form of rostrocaudal muscular dystrophy that affects skeletal muscle tissues with an unusual front-to-back severity of symptoms. We now have an excellent model for this childhood disorder to learn about the molecular causes of disease and to test for potential therapeutic strategies.

    Complex Traits|Genetics and Genomics|Aging|Neurodegenerative and Neuromuscular Diseases Complex Traits|Genetics and Genomics|Aging|Neurodegenerative and Neuromuscular Diseases The Cox Lab Associate Professor
    Dumont Beth Dumont, Ph.D. Bar Harbor, ME
    Researching the mechanisms that generate genetic diversity through the lens of evolution
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    Mutation, recombination, and chromosome assortment account for all genetic diversity in nature, ranging from variants associated with disease to adaptive genetic changes. Despite their fundamental significance to genetic inheritance, the frequencies of mutation and recombination and the strength of chromosome transmission biases vary tremendously among individuals.

    The broad objective of my research group is to understand the causes of variation in the very mechanisms that generate genetic diversity. Toward this goal, we pursue two complementary research strategies. First, we leverage the recognition that mutation rate, recombination frequency, and biased chromosome transmission are themselves complex genetic traits controlled by multiple genes and their interactions. We combine cytogenetic and genomic approaches for assaying DNA transmission with quantitative genetic analyses in order to identify the genetic and molecular causes of variation in these mechanisms. Second, through targeted investigations of loci with extreme recombination or mutation rates, we aim to illuminate the biological mechanisms that stimulate or suppress these processes. We are currently using this latter approach to investigate recombination rate regulation, patterns of genetic diversity, and the evolutionary history of the mammalian pseudoautosomal region.

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    Complex Traits|Computational Biology|Genetics and Genomics|Reproductive Disorders Complex Traits|Computational Biology|Genetics and Genomics|Reproductive Disorders The Dumont Lab Assistant Professor
    Handel Mary Ann Handel, Ph.D. Bar Harbor, ME
    Investigates the genetic regulation of meiosis and the mechanisms of male fertility to understand how errors in meiosis can lead to developmental abnormalities.
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    The Handel laboratory investigates the genetic regulation of meiosis and spermatogenesis and male fertility. Meiosis is the specialized cell division, unique to germ cells, that reduces the number of chromosome sets from two (diploid) to one(haploid), thus producing the egg and sperm gametes that come together during sexual reproduction. Appropriate dynamics and behavior of chromosomes during meiosis are essential to genetic integrity and reproductive success. Our investigations focus on factors extrinsic and intrinsic to meiotic chromosomes that establish meiotic chromosome structural transitions in both male and female germ cells and identify sexually dimorphic events. From our endeavors, significant new information is emerging about how germ cells program meiotic events, and ultimately this will help us understand how errors in meiotic mechanisms lead to aneuploidy, or inappropriate chromosome number, producing developmental abnormalities in offspring.

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    Reproductive Disorders|Developmental Disorders|Genetics and Genomics Reproductive Disorders|Developmental Disorders|Genetics and Genomics The Handel Lab Professor
    Harrison David E. Harrison, Ph.D. Bar Harbor, ME
    Researches the genetics of aging and lifespan, seeking to understand the basic mechanisms of aging, and adult stem cells, with the goal of delaying normal aging processes.
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    The Harrison research group investigates aging in mouse models, focusing on processes that have the potential to retard aging and prolong health. For example, one line of research investigates mutations that reduce IGF-1 and insulin function. Such mutations can increase life span and delay certain aspects of aging, especially development of cancer. We also demonstrated through an Intervention Testing Program (ITP) that rapamycin, an inhibitor of the mTOR pathway, extends median and maximal lifespan in mice. We are continuing our ITP research.

    Our other focus area is on hematopoietic stem cells (HSCs) and other adult stem cells, which constantly proliferate and differentiate to maintain tissue functions throughout life. If aging exhausts the function of adult stem cells, the balance between damage and repair is disrupted and tissue functions become defective. Our group has found that genetic mechanisms protect hematopoietic stem cells from exhaustion in some mouse strains, and we are working to define the specific mechanisms. Our long-term goal is to promote healthful aging in humans, either by delaying normal aging processes or by minimizing or eliminating diseases of aging.

    Aging|Diabetes and Obesity|Complex Traits|Reproductive Disorders Aging|Diabetes and Obesity|Complex Traits|Reproductive Disorders The Harrison Lab Professor
    Hinson J. Travis Hinson, M.D. Farmington, CT
    Utilizes genomic approaches like CRISPR/CAS to interrogate mechanisms of inherited cardiovascular disorders especially those that lead to heart failure.
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    J. Travis Hinson, M.D., utilizes genomic approaches like CRISPR/CAS to interrogate mechanisms of inherited cardiovascular disorders especially those that lead to heart failure. He is particularly interested in developing single cell and cardiac microtissue assays derived from disease-specific, human induced pluripotent stem cells (iPScs) in combination with in vivo mouse models. His lab’s current research focus is:

    1. To define the role of AMP-activated protein kinase in physiologic and pathologic forms of cardiac remodeling.
    2. To engineer cardiac microtissues to study the most common forms of familial hypertrophic and dilated cardiomyopathies due to sarcomere mutations. 
    3. To develop assays for high-throughput functional genomic screens to predict pathogenicity of genetic variation in cardiomyopathy genes. 

    These studies capitalize on the Laboratory’s expertise in human genetics, stem cell biology, tissue engineering and computational methods. While my laboratory is at the Jackson Lababoratory, I also maintain a clinical practice treating patients with inherited cardiovascular diseases at the University of Connecticut Cardiology division. 

    Genetics and Genomics Genetics and Genomics The Hinson Lab Assistant Professor

    Gareth Howell, Ph.D.

    Associate Professor, Diana Davis Spencer Foundation Chair for Glaucoma Research

    Bar Harbor, ME

    207-288-6572

    Howell Gareth Howell, Ph.D. Bar Harbor, ME
    Applies genetics and genomics approaches to study age-related neurodegeneration associated with Alzheimer’s disease, dementia and glaucoma.
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    In the Howell lab, we apply genetics and genomics approaches to identify fundamental processes involved in the initiation and early propagation of age-related neurodegenerative diseases, focusing on Alzheimer's disease, non-Alzheimer's dementia and glaucoma. Understanding these processes provides the greatest opportunity of therapeutic intervention. We are particularly interested in the role of non-neuronal cells including astrocytes, monocyte-derived cells (such as microglia), endothelial cells and pericytes.

    In previous work, I applied novel genomics and bioinformatics strategies to identify new molecular stages of glaucoma that preceded morphological changes. Genetic knockout and/or pharmaceutical approaches showed that targeting the complement cascade and endothelin system significantly lessened glaucomatous neurodegeneration in mice. Our work with glaucoma continues in collaboration with Dr. Simon John, and we are also now applying similar genetics and genomics strategies to understand initiating and early stages of Alzheimer's disease, vascular dementia and other dementias. A major aim is to combine knowledge from human genetic studies with the strengths of mouse genetics to develop new and improved mouse models for dementias and make them readily available to scientific community.

    Genetics and Genomics|Bioinformatics|Aging|Neurodegenerative and Neuromuscular Diseases Genetics and Genomics|Bioinformatics|Aging|Neurodegenerative and Neuromuscular Diseases The Howell Lab Associate Professor
    John Simon John, Ph.D. Bar Harbor, ME
    Researches glaucoma and other neurodegenerative disease, developing new microelectronic devices to monitor/treat disease.
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    We use genetics, genomics, cell biology and physiology to understand the fundamental biologic processes that cause disease. We focus on IOP regulation and neurodegeneration in glaucoma, but also have experience studying other diseases including, anterior segment dysgenesis, uveitis, iris atrophy, pigment dispersion, nanophthalmos, macular degeneration, and axonopathies. As necessary, we provide new knowledge by innovating and developing new research tools as well as by fostering collaborations. In collaboration with biomedical and electrical engineers, we are developing new microelectronic devices to enhance research and monitor/treat disease. Major goals are to provide new understanding of disease mechanisms and new devices to improve patient care and treatments.

    Complex Traits|Genetics and Genomics|Aging|Developmental Disorders Complex Traits|Genetics and Genomics|Aging|Developmental Disorders The John Lab Professor
    Johnson Kenneth Johnson, Ph.D. Bar Harbor, ME
    Researches the molecules and pathways important to the development and physiology of the ear, with a focus on hearing loss and impairment.
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    The overall goal of our research program is to identify molecules and pathways that are important in the development and physiology of the ear. We study mouse mutations that disrupt these processes and develop these mutations as models of human deafness disorders and age-related hearing loss. In collaboration with colleagues we identified the first known gene in the mouse to cause age-related hearing loss (AHL), the most common type of human hearing impairment. We have mapped additional gene loci that contribute to AHL and have identified some of the underlying genes. Our research team is also investigating new mouse mutations that cause hearing impairment. By identifying the genes underlying these mutations and studying their functions, we hope to gain a better understanding of the molecular mechanisms involved in the auditory process. The mutant mice also provide valuable models for studying human nonsyndromic deafness disorders and human syndromes with associated deafness.

    Computational Biology|Genetics and Genomics|Neurodegenerative and Neuromuscular Diseases|Developmental Disorders Computational Biology|Genetics and Genomics|Neurodegenerative and Neuromuscular Diseases|Developmental Disorders The Johnson Lab Associate Professor

    Catherine Kaczorowski, Ph.D.

    Associate Professor, Evnin Family Chair in Alzheimer’s Research

    Bar Harbor, ME

    207-288-6368

    Kaczorowski Catherine Cook Kaczorowski, Ph.D. Bar Harbor, ME
    Identify early causative events that underlie cognitive deficits associated with ‘normal’ aging and Alzheimer’s disease
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    My research focus is to identify early causative events that underlie cognitive deficits associated with ‘normal’ aging and Alzheimer’s disease. Using multidisciplinary approaches that combine systems genetics with innovative high resolution and high throughput membrane proteomics, viral-based gene transduction approaches, behavioral assays, in vitro brain slice electrophysiology and in vivo electrophysiological recordings in freely behaving mice, my research seeks to identify and understand how genetic factors and misregulated membrane proteins in the hippocampus of aging and AD mouse models alter hippocampal neuron excitability, functional connectivity of hippocampal neural networks, and memory.

    Neurodegenerative and Neuromuscular Diseases|Aging Neurodegenerative and Neuromuscular Diseases|Aging The Kaczorowski Lab Associate Professor
    Kadin James Kadin, Ph.D. Bar Harbor, ME
    Providing database development and web delivery for the Mouse Genome Informatics consortium.
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    The Mouse Genome Informatics consortium (MGI) integrates data from over 40 external resources with hand-curated data from published literature to provide an integrated data resource/website that facilitates the use of the mouse as a model for human disease and biology. My role in MGI is to co-direct, with Joel Richardson, the technical work behind theresource. This includes overseeing the hardware and software architecture and thesoftware/database development for both the back end, where data is loaded/integrated,and the front end website, where data is made available for public researchers. This worksupports most of the MGI programs, including the Mouse Genome Database (MGD) and the Gene Expression Database (GXD).

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    Genetics and Genomics|Neurodegenerative and Neuromuscular Diseases|Bioinformatics|Resource Development and Dissemination Genetics and Genomics|Neurodegenerative and Neuromuscular Diseases|Bioinformatics|Resource Development and Dissemination The Bult Lab Senior Research Scientist
    Ke Shengdong Ke, Ph.D. Bar Harbor, ME
    Develops novel genomic technologies and computational algorithms to study molecular mechanisms of RNA biology, including RNA modifications, RNA-protein interactions and messenger RNA (mRNA) processing.
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    As an indispensible molecule of living organisms, RNA plays key roles in various biological processes at both intra- and inter-cellular levels. My overall research interest is to study RNA from birth to death during organism neurological development, and its malfunctions in diseases for effective therapies in clinics. My research has been always implementing inter-discipline approaches, including bioinformatics (genomics), biochemistry, innovative biotechnologies, genetics and molecular biology.

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    Shengong Ke on Google Scholar

    Computational Biology|Bioinformatics|Behavioral Disorders|Cancer Computational Biology|Bioinformatics|Behavioral Disorders|Cancer Assistant Professor
    Kim Hoon Kim, Ph.D., M.Sc. Farmington, CT
    Computational analysis of high throughput sequencing data to improve our understanding of tumor biology and evolution.
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    Dr. Kim has a Ph.D. in Electrical Engineering from Columbia University where he did research on computational biology with emphasis on data mining and systematic analysis of genomic data. The current focus of his research is on understanding disease evolution of brain tumors.

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    Computational Biology|Genetics and Genomics|Bioinformatics|Cancer Computational Biology|Genetics and Genomics|Bioinformatics|Cancer The Verhaak Lab Senior Research Scientist
    Korstanje Ron Korstanje, Ph.D., FAHA Bar Harbor, ME
    Studies the genetics of kidney function and disease, particularly in the context of aging, using genetically diverse mouse models.
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    Chronic kidney disease (CKD) is a growing medical problem, and the number of patients progressing to end-stage renal disease has increased by 95 percent over the last 10 years in the United States. There are currently over half a million Americans on dialysis, a procedure that severely reduces quality of life and comes with much comorbidity. Furthermore, the impact of CKD is not limited to impairments related to renal failure. CKD is also recognized as an important risk factor for other ailments such as cardiovascular disease, including myocardial infarction, atherosclerosis, stroke and hypertension. A critical and unavoidable contributor to CKD is normal kidney aging.

    Our goal is to identify key genetic factors that contribute to the decline of function and damage in the aging kidney, to learn their role in the kidney, and to understand why variations of these factors lead to different outcomes. We do this by studying the natural genetic variation in mice and their association with different kidney phenotypes. Once causal genes are identified, we develop precision disease models for further study of the gene and to develop therapeutics that will slow down the decline of kidney function and development of disease.

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    Genetics and Genomics|Complex Traits|Aging Genetics and Genomics|Complex Traits|Aging The Korstanje Lab Assistant Professor
    Kumar Vivek Kumar, Ph.D. Bar Harbor, ME
    Researches behavior and behavioral abnormalities, including addiction, ADHD and depression, using mouse genetics as a platform.
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    The Kumar lab studies neural circuits in the brain whose misregulation leads to behavioral abnormalities including addiction, attention deficit and hyperactivity disorder,and depression. Using mouse molecular genetics as a foundation, and a combination of biochemistry, physiology, and imaging techniques, we dissect these complex behaviors in mammals.

    We use two functional genomics approaches in mice—forward genetic ethylnitrosourea (ENU) mutagenesis screens and quantitative trait loci (QTL) analysis—to identify genes and pathways that regulate these behaviors. Powerful and unbiased, forward genetic approaches make no a priori assumptions and only require a clear, well-defined assay for gene discovery. We have used a high-throughput screening pipeline to discover mutants for cocaine response and open-field behavior. Using physical mapping followed by next-generation sequencing, we have identified novel genes and alleles that regulate cocaine response and anxiety-related behaviors.

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    Behavioral Disorders|Genetics and Genomics|Complex Traits|Bioinformatics Behavioral Disorders|Genetics and Genomics|Complex Traits|Bioinformatics The Kumar Lab Assistant Professor
    Lau Ching Lau, M.D., Ph.D. Farmington, CT
    Dr. Lau specializes in pediatric brain and bone tumor research. His clinical interests include neuro-oncology, solid tumors, and osteosarcoma.
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    Ching Lau serves as the Medical Director of Hematology-Oncology at Connecticut Children’s, as Professor at JAX where he specializes in pediatric brain and bone tumor research, and as Head of the Division of Pediatric Hematology-Oncology in the Department of Pediatrics at the UConn School of Medicine. His clinical interests include neuro-oncology, solid tumors, and osteosarcoma.

    Cancer Cancer The Lau Lab Professor
    Laubenbacher Reinhard Laubenbacher, Ph.D. Farmington, CT
    Interested in the mechanistic modeling of multi-scale disease processes, in particular infectious diseases and cancer.
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    Dr. Laubenbacher joined the University of Connecticut Health Center in May 2013 as Professor in the Department of Cell Biology and Co-Director of the Center for Quantitative Medicine. He is also Professor, Computational Biology, at The Jackson Laboratory for Genomic Medicine. Prior to this appointment, he served as a Professor at the Virginia Bioinformatics Institute and a Professor in the Department of Mathematics at Virginia Tech since 2001. He was also an Adjunct Professor in the Department of Cancer Biology at Wake Forest University in Winston-Salem (NC) and Affiliate Faculty in the Virginia Tech Wake Forest University School of Biomedical Engineering and Sciences. In addition, Dr. Laubenbacher was also Professor of Mathematics at New Mexico State University. He has served as Visiting Faculty at Los Alamos National Laboratories, was a member of the Mathematical Science Research Institute at Berkeley in 1998, and was a Visiting Associate Professor at Cornell University in 1990 and 1993. Current interests in Dr. Laubenbacher’s research group include the development of mathematical algorithms and their application to problems in systems biology, in particular the modeling and simulation of molecular networks. An application area of particular interest is cancer systems biology, especially the role of iron metabolism in breast cancer.

    Genetics and Genomics|Computational Biology Genetics and Genomics|Computational Biology The Laubenbacher Lab Professor
    Lee Se-Jin Lee, M.D., Ph.D. Farmington, CT
    Regulation of mammalian development and adult tissue homeostasis by growth and differentiation factors
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    Dr. Lee’s primary interest is to understand the role of signaling molecules in regulating embryonic development and adult tissue homeostasis. He has focused on the superfamily of secreted proteins that are structurally related to transforming growth factor-Β (TGF-Β). Members of this growth factor family have been shown to play important roles in regulating the development and function of many different tissues, and as a result, many of these factors have shown enormous therapeutic potential for a wide range of clinical applications. Using molecular genetic approaches, he and his lab have identified a large number of novel mammalian TGF-Β family members that we have designated growth/differentiation factors (GDFs). They have been using a variety of experimental approaches, including genetic manipulation of mice, to attempt to understand the precise biological functions of these molecules. We are particularly interested in understanding the roles of these molecules in regulating tissue growth.

    Much of his work has focused on a molecule that he and his team have designated myostatin. They have shown that myostatin is expressed specifically in developing and adult skeletal muscle and that mice engineered to lack myostatin exhibit dramatic increases in skeletal muscle mass throughout the body. Based on these and other studies, they believe that myostatin normally acts to block skeletal muscle growth.

    Dr. Lee and his team are currently attempting to elucidate the mechanism of action of myostatin as well as the mechanisms by which the activity of myostatin is regulated. Their long term goal is to attempt to exploit the biological properties of myostatin to develop novel therapeutic strategies for treating patients with muscle degenerative and wasting conditions, such as muscular dystrophy, sarcopenia, and cachexia resulting from diseases like cancer, AIDS and sepsis.

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    Genetics and Genomics Genetics and Genomics The Lee Lab Professor

    Charles Lee, Ph.D., FACMG

    Scientific Director and Professor, The Jackson laboratory for Genomic Medicine

    Farmington, CT

    Lee Charles Lee, Ph.D., FACMG Farmington, CT
    The study of structural genomic variation in human biology, evolution and disease
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    The research laboratory of Dr. Charles Lee at The Jackson Laboratory for Genomic Medicine develops and applies state-of-the-art technologies to study structural genomic variation and its contribution to human diseases, and vertebrate genome evolution.

    Genetics and Genomics|Bioinformatics|Computational Biology|Aging Genetics and Genomics|Bioinformatics|Computational Biology|Aging The Lee Lab Leadership|Professor
    Li Sheng Li, Ph.D. Farmington, CT
    Investigate cancer evolution using computational and statistical approaches.
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    My research interest is to understand the inner workings of cancer cells – the genetic and epigenetic heterogeneity that drive cancer initiation and progression. We utilize computational and sequencing methodologies to identify and characterize the essential epigenetic lesions that guide cancer cells to evolve and escape from anti-cancer therapy. The ultimate goal is to develop novel methods to predict and address tumor evolution.

    Cancer|Computational Biology|Bioinformatics|Genetics and Genomics Cancer|Computational Biology|Bioinformatics|Genetics and Genomics The Li Lab Assistant Professor
    Liu Edison T. Liu, M.D. Bar Harbor, ME
    Conducts research focused on the functional genomics of breast cancer through an exploration of the entire genomic space.
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    Dr. Liu is the president and CEO of The Jackson Laboratory. Previously, he was the founding executive director of the Genome Institute of Singapore (2001-2011), and was the president of the Human Genome Organization (HUGO) from 2007-2013. Between 1997 and 2001, he was the scientific director of the National Cancer Institute's Division of Clinical Sciences in Bethesda, Md., where he was in charge of the intramural clinical translational science programs.

    From 1987 to 1996, Dr. Liu was a faculty member at the University of North Carolina at Chapel Hill, where he was the director of the UNC Lineberger Comprehensive Cancer Center's Specialized Program of Research Excellence in Breast Cancer; the director of the Laboratory of Molecular Epidemiology at UNC's School of Public Health; chief of Medical Genetics; and the chair of the Correlative Science Committee of the national cooperative clinical trials group, CALGB. Dr. Liu is an international expert in cancer biology, genomics, human genetics, molecular epidemiology and translational medicine.

    Dr. Liu's own scientific research has focused on the functional genomics of human cancers, particularly breast cancer, uncovering new oncogenes, and deciphering on a genomic scale the dynamics of gene regulation that modulate cancer biology. He has authored over 300 scientific papers and reviews, and co-authored two books. He obtained his B.S. in chemistry and psychology, as well as his M.D., at Stanford University. He served his internship and residency at Washington University's Barnes Hospital in St. Louis, followed by an oncology fellowship at Stanford. From 1982 to 1987 he was at the University of California, San Francisco, at the G.W. Hooper Foundation.

    Cancer|Genetics and Genomics Cancer|Genetics and Genomics The Liu Lab Leadership|Professor
    Lu Mingyang Lu, Ph.D. Bar Harbor, ME
    We are passionate about the development and application of computational modeling methods to study the operating mechanisms of cancer genetic networks.
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    We use systems biology approaches to uncover the underlying principles governing the operation of genetic networks. Specifically, we integrate computational modeling and data analysis to elucidate the relationship among robustness of network dynamics, stochasticity in gene expression and heterogeneity in cancer evolution. Our studies will contribute to a systems-level understanding of cancer and will eventually lead to the design of personalized therapies for cancer patients.


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    View Mingyang Lu on Google Scholar 

    View Mingyang Lu on Research Gate   

    View Mingyang Lu personal Lab Site   
    Bioinformatics|Cancer|Computational Biology|Genetics and Genomics Bioinformatics|Cancer|Computational Biology|Genetics and Genomics The Lu Lab Assistant Professor

    Cat Lutz, Ph.D.

    Senior Director, Mouse Repository & In Vivo Pharmacology Genetic Resource Science / Senior research scientist

    Bar Harbor, ME

      207-288-6341

      Lutz Cathleen (Cat) Lutz, Ph.D., M.B.A. Bar Harbor, ME
      The primary research goals of the Lutz lab involve developing preclinical mouse models of neurodegeneration to test therapeutics and inform clinical trials.
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      Dr. Lutz is Director of the Mouse Repository and the Rare and Orphan Disease Center at The Jackson Laboratory.  She has fiscal and managerial oversight of a growing collection of more than 8,500 unique strains, including over 1,700 live colonies for distribution to the scientific community.   As part of the Mouse Repository program, Dr. Lutz is the Principal investigator on a number of NIH sponsored resource grants, including the Mutant Mouse Regional and Research Center at JAX, The SMSR grant to support recombinant inbred  and Chromosome substitution panels, as well as the NICHD Cytogenetic Resource to support Down Syndrome related strains and research.   Dr. Lutz also serves as the Director of In Vivo Pharmacology and Efficacy Testing Program in Bar Harbor, which interfaces with biotechnology and pharmaceutical companies to pursue novel therapeutics across a variety of therapeutic areas.  

      A neuroscientist by training, Dr. Lutz conducts research in neurodegenerative diseases, including Spinal Muscular Atrophy (SMA), Friedreich’s ataxia, Amyotrophic Lateral Sclerosis (ALS) and Frontotemperal Lobe Dementia (FTD.    Her lab works closely with multiple disease foundations and researchers in the development, characterization and validation of mouse models that support their research and drug discovery goals.  These organizations include The ALS Association, The Friedreich’s Ataxia Research Alliance, the Spinal Muscular Atrophy (SMA) Foundation, Cure SMA, and the Grace Science Foundation.

      Neurodegenerative and Neuromuscular Diseases Neurodegenerative and Neuromuscular Diseases Senior Research Scientist
      Munger Steven Munger, Ph.D. Bar Harbor, ME
      Conducting research to elucidate and compare the transcriptional network structure and dynamics driving organogenesis.
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      It has become clear that genetic background, including both common and rare variants, significantly influences disease susceptibility, severity, prognosis and even treatment effectiveness. Most genetic variants assert subtle effects in isolation, but certain combinations can disrupt normal homeostasis and sensitize an individual to disorder. Thus, many complex diseases have resisted classification by single-gene experimental and/or statistical modeling approaches. A comprehensive characterization of the genetic etiology of complex disorders and disease must account for the effects of all inputs (e.g. genetic variation) on all outputs (e.g. transcription, measures of structure/function) in the context of the affected system. 

      My overarching research goals are to 1) characterize the transcriptional network architecture underlying normal organ development and homeostasis, 2) predict the genes, gene-gene interactions, and coregulated gene cohorts with major roles in this process, and 3) identify and validate genetic mutations with individual small effects that together disrupt the buffering capacity of the transcriptional network and cause a disordered/disease state. To that end, I take a systems genetics approach that integrates advanced computational methods and experimental validation techniques to next-generation genetic mapping populations, including the mouse Collaborative Cross and Diversity Outcross, to elucidate and compare the transcriptional network structure and dynamics driving organogenesis (the embryonic gonad at the critical time point of primary sex determination) and adult tissue homeostasis (liver).

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      Complex Traits|Genetics and Genomics|Developmental Disorders|Reproductive Disorders Complex Traits|Genetics and Genomics|Developmental Disorders|Reproductive Disorders The Munger Lab Assistant Professor
      Munnamalai Vidhya Munnamalai, Ph.D. Bar Harbor, ME
      Development of the mammalian inner ear, investigating cell fate decisions under the influence of signaling pathways.
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      The cochlea is an incredibly complex, but well-designed organ. Precise patterning across its width is linked to neural connections going to or from the brain. These different neurons serve, respectively, to convey sound to the brain, or to dampen the signal in the presence of very loud sounds. We are interested in how patterning is determined under the context of multiple signaling pathways.

      Developmental Disorders|Genetics and Genomics Developmental Disorders|Genetics and Genomics Assistant Professor

      Steve Murray, Ph.D.

      Associate Professor & Director, KOMP Model Development

      Bar Harbor, ME

      207-288-6857

        Murray Steve Murray, Ph.D. Bar Harbor, ME
        Dissects the genetic mechanisms of craniofacial development and dysmorphology, and develops new genetic tools and resources for the scientific community.
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        Research in my laboratory focuses on two major areas: dissecting the genetic mechanisms of mammalian development, with a focus on craniofacial development and dysmorphology, and developing new genetic tools and resources for the scientific community. We have a longstanding interest in the genes and mechanisms that govern neural crest formation, migration and differentiation. Defects in these processes often result in craniofacial abnormalities. We take both forward and reverse genetic approaches to identify new genes and pathways involved in neural crest and craniofacial development, taking advantage of unique tools and resources available at JAX. We are also working with a number of clinical collaborators, using CRISPR/Cas9 to model novel mutations hypothesize to cause a variety developmental disorders including congenital heart disease and craniofacial malformations.

        Supporting this basic research interest, a significant portion of the lab effort is dedicated to developing new mouse genetic resources for the scientific community. This includes development of Cre driver resources and the JAX Knockout Mouse Phenotyping Program (KOMP2). The overarching goal KOMP2 and its partners in the International Mouse Phenotyping Consortium (IMPC) is to generate and phenotype a genome-wide set of knockout mice to build a comprehensive catalogue of gene function. As part of this effort, we have established a high-throughput platform to identify and characterize novel essential mouse genes (embryonic lethal) using advanced imaging techniques such as embryo microCT and optical projection tomography (OPT). This platform not only provides numerous new gene targets for further examination, it also serves as a key tool for our efforts to rapidly model human developmental disorders in mice. Our Cre driver program involves both generation of novel cre driver lines for the scientific community and a pipeline for characterization of both new and existing lines.


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        The Murray Lab Associate Professor
        Naggert Jürgen Naggert, Ph.D. Bar Harbor, ME
        Researches the complex genetics of metabolic syndrome, involving obesity, cardiovascular disease and type 2 diabetes.
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        Obesity and Type 2 diabetes mellitus (T2D) are highly prevalent metabolic diseases that afflict a large proportion of the aging population in the United States. Nearly 40 percent of adults are obese, and about 10 percent of individuals over 65 have T2D. These diseases, together with cardiovascular disease, should be viewed as aspects of a metabolic syndrome that is a result of the interaction of many genes, rather than a collection of separate entities. To illustrate the complexity of the issue, there are approximately 500 to 1,000 genes in mice that may lead to obesity when mutated. Our program aims to identify new obesity and type 2 diabetes mutations and their genetic modifiers and to determine how the underlying mutations cause the disease phenotype.

        One focus of our investigations are ciliopathies (diseases caused by impaired function of primary cilia), which combine aspects of metabolic syndrome with sensory loss. Our laboratory identified a human gene, ALMS1, that is mutated in patients with Alström syndrome, a rare inherited condition characterized by childhood obesity, retinal and cochlear (inner ear) degeneration, type 2 diabetes, proliferative and dilated cardiomyopathy, hepatosteatitis, and kidney disease.

        Complex Traits|Bioinformatics|Computational Biology|Genetics and Genomics Complex Traits|Bioinformatics|Computational Biology|Genetics and Genomics The Naggert Lab Professor
        Nishina Patsy Nishina, Ph.D. Bar Harbor, ME
        Employs mouse models of human eye disease to study gene function and mechanisms underlying disease pathology.
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        Approximately 50 million people worldwide are blind and ~150 million are significantly vision-impaired. Except for trauma and infections, the majority of human eye diseases are genetic in nature. Initially, the goal of our research program was to use mouse models as an entry point to identify the molecules that were essential for normal retinal development and function through positional cloning efforts. We have identified the molecular basis of >100 models, discovered through spontaneous and chemically induced screening.

        With the maturation of our program, we have begun to focus on using these models to study gene function and mechanisms underlying disease pathology. Knowledge of genetic modifiers and interaction partners is critically important in understanding the pathways that lead from a primary genetic defect to an observable phenotype. The overriding theme of our program currently is the elucidation of interactions that occur among molecules to identify common functional pathways as well as pathways that lead to disease and are impacted by primary mutations. We employ a blend of marker analyses, noninvasive imaging, functional studies, and generation of mouse resources that aim toward a greater understanding of the function and pathways in which the mutant retinal molecules we have identified act.

        Genetics and Genomics|Resource Development and Dissemination|Complex Traits|Aging Genetics and Genomics|Resource Development and Dissemination|Complex Traits|Aging The Nishina Lab Professor

        Kristen O'Connell, Ph.D.

        Assistant Professor

        Bar Harbor, ME

        207-288-6012

          O'Connell Kristen M.S. O'Connell, Ph.D. Bar Harbor, ME
          Kristen O’Connell’s research program is focused on understanding the impact of diet, body weight and peripheral hormone signaling on neuronal excitability and plasticity in the hypothalamus and other brain regions associated with the regulation of food intake and body weight.
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          Kristen O’Connell’s research program is focused on understanding the impact of diet, body weight and peripheral hormone signaling on neuronal excitability and plasticity in the hypothalamus and other brain regions associated with the regulation of food intake and body weight.

          The O'Connell Lab Assistant Professor

          Hideyuki Oguro, Ph.D.

          Associate Director, Cellular Engineering

          Farmington, CT

            860-837-2052

            Oguro Hideyuki Oguro, Ph.D. Farmington, CT
            Investigates the mechanisms that regulate hematopoietic stem cell function in mice and humans, and generates immune-humanized mice from pluripotent stem cells.
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            My research goal is to elucidate the mechanisms that regulate hematopoietic stem cell (HSC) development, self-renewal, and malignant transformation. My primary focus is to study the regulation of HSC development and generate immune-humanized mice using HSCs derived from human induced pluripotent stem cells (hiPSCs). This will provide in-vivo models of human hematopoietic and immune systems as well as hematopoietic malignancies and immune disorders, and allow us to investigate functions of specific genes of interests in these systems using genome-edited hiPSCs. By generating patient-derived xenograft models of cancer in the context of mice harboring humanized immune systems, generated from hiPSCs derived from the same patient, the key interactions between human immune cells and cancer cells can be investigated.

            Another focus is to investigate how the HSC population expands in response to physiological hematopoietic stress using mouse models. Deciphering the molecular signals that allow HSCs to expand in vivo will be instructive to understand the mechanisms that regulate HSC self-renewal, and to develop approaches to promote hematopoietic regeneration and to expand HSCs ex vivo. I am also seeking to understand how normal mechanisms that regulate HSC expansion in response to hematopoietic stress are exploited during the development and progression of hematopoietic malignancies.

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            Cancer|Genetics and Genomics|Immune Disorders Cancer|Genetics and Genomics|Immune Disorders Senior Research Scientist
            Oh Julia Oh, Ph.D. Farmington, CT
            Our central goal is to investigate how our microbes contribute to our health. We seek to use diverse technologies like genomics, synthetic biology, and genome engineering to target and manipulate the microbiota for therapeutic purposes.
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            Dr. Oh's main research interests focus on the human microbiome—the diverse bacteria, fungi, and viruses that inhabit our bodies—for its potential to deliver treatments for infectious and other diseases.  Dr. Oh comes to the microbiome world by way of fungal chemogenomics with technologist and geneticist Dr. Ronald Davis at Stanford and comparative genomics of wild wine yeast at the FAS Center for Systems Biology at Harvard. Prior to joining the Jackson Laboratory, she was a postdoctoral fellow at the National Human Genome Research Institute (NHGRI) of the National Institutes of Health. Dr. Oh's research, exploring the complex interactions between the host and its microbes has lead to important implications for the contribution of the microbiome to disease.

            More information at http://ohlabjax.weebly.com

            Infectious Disease Research|Genetics and Genomics|Bioinformatics|Skin Disease Infectious Disease Research|Genetics and Genomics|Bioinformatics|Skin Disease The Oh Lab Assistant Professor
            Ouyang Zhengqing Ouyang, Ph.D. Farmington, CT
            Investigates gene regulatory networks in cellular processes using computational and statistical approaches.
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            Our laboratory investigates gene regulatory networks in cellular processes using computational and statistical approaches. We develop quantitative models and statistical learning methods for genomics. This involves analyzing "big data" from cutting-edge sequencing technologies and integrating various types of high-throughput genomic datasets. We have a particular interest in modeling genome regulation, including, but not limited to, transcription, noncoding RNA regulation and chromatin organization.

            Visit the personal site of the Ouyang Lab

            Neurodegenerative and Neuromuscular Diseases|Cancer|Genetics and Genomics|Aging Neurodegenerative and Neuromuscular Diseases|Cancer|Genetics and Genomics|Aging The Ouyang Lab Assistant Professor
            Paigen Ken Paigen, Ph.D. Bar Harbor, ME
            Researches genetic recombination, exploring the mechanisms that determine its location and DNA binding specificity.
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            DNA carries out its functions by serving as the substrate for three biological processes: replication, genetic recombination and gene transcription. Our group is presently concerned with genetic recombination, exploring the mechanisms that determine the location of genetic recombination sites and the complex rules of DNA binding specificity. We are identifying and characterizing the components of a novel regulatory system controlling the location of recombination hotspots, the sites of genetic recombination, and the extent to which binding protein variants, partner protein interactions, and the influences of sex affect recombination.

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            Genetics and Genomics|Computational Biology|Cancer|Developmental Disorders Genetics and Genomics|Computational Biology|Cancer|Developmental Disorders The Paigen Lab Professor
            Palucka Karolina Palucka, M.D., Ph.D. Farmington, CT
            Conducts research to understand how vaccines work and to define precisely the immune mechanisms that underlie vaccination, with a focus on cancer immunotherapies.
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            My laboratory specializes in human immunology with a focus on experimental immunotherapy. We have pioneered the development of dendritic cell-based vaccines for patients with cancer or HIV, and I am very interested in understanding how vaccines work and precisely defining the immune mechanisms that underpin successful vaccination. We apply cutting-edge genomic approaches that offer unprecedented insights into the inner workings of immune cells (single-cell genomics, hybrid sequencing and long RNA reads).This knowledge can catalyze the discovery and development of novel immunotherapies,including vaccines that target cancer.

            Highlighted Publication

            Wu TC, Xu K, Martinek J, Young RR, Banchereau R, George J, Turner J, Kim KI, Zurawski S, Wang X, Blankenship D, Brookes HM, Marches F, Obermoser G, Lavecchio E, Levin MK, Bae S, Chung CH, Smith JL, Cepika AM, Oxley KL, Snipes GJ, Banchereau J, Pascual V, O’Shaughnessy J, Palucka K. IL-1 receptor antagonist controls transcriptional signature of inflammation in patients with metastatic breast cancer. Cancer Res. 2018 Sept 15; 78(18): 5243-5258. doi: 10.1158/0008-5472.CAN-18-0413. PubMed PMID: 30012670.

            Cover of 'Cancer Research', September 2018

             

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             Download Commentary by Charles Dinarello 

             

             

            View publication on Cancer Research Website
            Infectious Disease Research|Immune Disorders|Cancer|Genetics and Genomics Infectious Disease Research|Immune Disorders|Cancer|Genetics and Genomics The Palucka Lab Professor
            Pera Martin Pera, Ph.D. Bar Harbor, ME
            The extrinsic regulation of self-renewal and lineage specification of human pluripotent stem cells. The genetic basis for individual variation in the response of the central nervous system to injury.
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            Martin Pera was amongst a small group of researchers who pioneered the isolation and characterization of pluripotent stem cells from human germ cell tumours, studies that provided an important framework for the development of human embryonic stem cells. His laboratory at Monash University was the second in the world to isolate embryonic stem cells from the human blastocyst, and the first to describe their differentiation into somatic cells (precursors of the central nervous system). Currently his lab studies the regulation of self-renewal and pluripotency, heterogeneity in pluripotent stem cell populations, and neural specification of pluripotent stem cells. His work on neural differentiation of human pluripotent stem cells led to the development of a new treatment for macular degeneration, a common form of blindness, which is now in clinical trial in Israel. He has provided extensive advice to state, national and international regulatory authorities on the scientific background to stem cell research, and has delivered hundreds of commentaries for print and electronic media on stem cell research, ethics, and regulatory policy. At the Jackson Laboratory Pera will continue work on the regulation of pluripotency, and will study the genetic basis of individual differences in the response of the central nervous system to injury.

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            Developmental Disorders Developmental Disorders The Pera Lab Professor
            Peters Luanne Peters, Ph.D. Bar Harbor, ME
            Researches blood formation with a focus on red blood cells and the genetics underlying defects leading to anemias.
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            Our research focuses on blood formation, or hematopoiesis, with a major emphasis on the development of red blood cells (erythropoiesis). Defects in the production, structure and/or function of red blood cells, the oxygen-carrying cells of the body, lead to anemia. Anemia affects about 1.6 billion people worldwide, imposing an enormous burden on medical resources. We use the mouse as a model system to elucidate the genetic basis of human inherited anemias, which include defects in iron and heme metabolism and transport, sickle cell disease, bone marrow failure and the anemia of aging. Mice are an excellent model system in which to pursue these studies for many reasons. Blood formation in mice and humans is remarkably similar, and mice get the same types of anemias due to the same underlying genetic causes as humans’. Identifying the genes that go awry to produce anemia is the first step in developing new therapeutics for its prevention and treatment. We study both single-gene (Mendelian) defects and complex, polygenic phenotypes that arise from natural genetic variation in inbred strains and other reference mouse populations. We utilize the most state-of-the- art genetic techniques in both genotype- and phenotype-driven approaches to identify and functionally analyze genes critical to erythropoiesis and red cell structure, function and survival.

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            Genetics and Genomics|Complex Traits|Aging Genetics and Genomics|Complex Traits|Aging The Peters Lab Professor
            Petkov Petko Petkov, Ph.D. Bar Harbor, ME
            Investigating genetics/mechanisms of recombination and role of PRDM9.
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            My main research interests are in high-resolution studies of recombination and genes that affect recombination positioning and activity, including epistatic genes that interact in networks to control recombination initiation. We have identified the major recombination hotspot regulator gene, Prdm9, which binds to hotspot DNA sequences through its long zinc finger array, and locally trimethylates histone H3 lysine4, a chromatin-activating reaction. Studying the specificity of PRDM9 binding to DNA in vitro, we developed a novel approach, Affinity-seq, which identifies both the genome-wide binding sites of DNA-binding proteins and quantitates their relative affinities. We are now extending this approach to other long zinc finger proteins to provide the most abundant material for determining the rules of binding long zinc finger array proteins to DNA. A major focus of our lab now is how PRDM9 interacts with other proteins to activate recombination. We identified four proteins—Ewsr1, CXXC1, EHMT2, and CDYL—that bind to PRDM9 and provide link between activated hotspots and the chromosomal axis in meiosis, thereby ensuring the proper positioning of homologous chromosomes for successful meiosis. Beyond clarifying these mechanisms critical for meiosis, our results also have the potential to advance the understanding of cancer, as these proteins have been directly implicated in carcinogenesis.

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            Cancer|Reproductive Disorders|Genetics and Genomics|Computational Biology Cancer|Reproductive Disorders|Genetics and Genomics|Computational Biology Senior Research Scientist
            Reinholdt Laura Reinholdt, Ph.D. Bar Harbor, ME
            Dr. Reinholdt’s research focuses on comparative and functional mammalian genomics, reproductive development and stem cell biology.
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            Broadly, Dr. Reinholdt’s research interests are in the development and application of genetic approaches for understanding the etiology of genome variation and for understanding the role of genome variation in health and disease.

            Dr. Reinholdt’s interests in the role of genetic variation in disease led her to focus her research efforts on an exceptional resource of laboratory mouse strains with proven Mendelian disorders with unknown genetic etiology, strains stewarded by the Mouse Mutant Resource at The Jackson Laboratory for over 50 years. Taking advantage of this resource, her laboratory was one of the first to apply exome sequencing at scale for the discovery of naturally occurring genetic variants (mutations) that cause Mendelian disease in mice. Her laboratory is now focusing on the significant proportion of mutations that escape detection by exome sequencing to further understand the nature of these mutations and to improve computational approaches mutation discovery. Using reverse genetic approaches, Dr. Reinholdt’s laboratory is also working closely with the human genetics community to create new strains of mice carrying human Mendelian disease mutations.

            Heritable genetic variation is the result of genome instability during germ cell development, instability that arises through mutation, chromosome rearrangement or chromosome mis-segregation during mitosis or meiosis. Germ cells employ a variety of mechanisms to counteract these destabilizing events and these mechanisms can ultimately result in developmental arrest and cell death. However, these mechanisms are still poorly understood and when they fail, aneuploidy and infertility result. Dr. Reinholdt’s post-doctoral work on the discovery of genes required for normal germ line development and fertility led to the discovery that the germ line is exquisitely sensitive to mutations in components of the mitotic spindle that have the potential to lead to aneuploidy. This sensitivity may also extend to embryonic and adult stem cells. Dr. Reinholdt’s laboratory have gone on to show that the sensitivity of the germ line genome instability differs across inbred strains of mice, offering a unique opportunity to use systems genetics approaches to discover the underlying pathways governing cell division and survival across a variety of cell types.

            We are interested in the development and application of both forward and reverse genetic approaches for understanding the etiology of genome variation and it’s role in health and disease.


            Complex Traits|Bioinformatics|Genetics and Genomics|Resource Development and Dissemination Complex Traits|Bioinformatics|Genetics and Genomics|Resource Development and Dissemination The Reinholdt Lab Associate Professor
            Ren Guangwen "Gary" Ren, Ph.D. Bar Harbor, ME
            To study tumor microenvironment and tumor immunology in cancer therapeutic resistance and metastatic relapse
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            My group mainly focuses on elucidating how mesenchymal lineage cells (mesenchymal stem cells and fibroblasts) and immune-regulatory myeloid cells (neutrophils and macrophages) modulate the adaptive immune responses in cancer treatment resistance and metastatic relapse. These studies will fully take advantage of the unique research platform--patient-derived xenograft (PDX) tumors in humanized mouse models at The Jackson Laboratory, with the research goal to develop novel strategies targeting tumor microenvironment to improve the efficacies of conventional cancer therapies and new therapeutics such as immunotherapy.

            Gary Ren on Google Scholar



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            Cancer|Aging|Immune Disorders Cancer|Aging|Immune Disorders The Ren Lab Assistant Professor
            Richardson Joel Richardson, Ph.D. Bar Harbor, ME
            Leads the software and database development teams that support a number of critical data resources.
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            The focus of my work is bioinformatics, specifically, the design, implementation,management and evolution of community databases. I have been intimately involved in the Mouse Genome Informatics (MGI) program since 1992. MGI provides online access to high-quality, comprehensive, and up-to-date information about the laboratory mouse, to support its use as a model for understanding human health and disease. Together with Jim Kadin, I lead the software and database development teams that support a number of resources,including the Mouse Genome Database (MGD – HG000330), the Gene eXpression Database for mouse development (GXD – HD062499), the Mouse Tumor Database (MTB –CA089713), and the International Mouse Strain Resource (IMSR - LM009693). I am also PI of the MouseMine project (HG004834), which provides a fast, powerful new data warehouse for accessing MGI data.

            Genetics and Genomics|Bioinformatics|Resource Development and Dissemination|Computational Biology Genetics and Genomics|Bioinformatics|Resource Development and Dissemination|Computational Biology Senior Research Scientist
            Ringwald Martin Ringwald, Ph.D. Bar Harbor, ME
            Develops and enhances the Gene Expression Database (GXD), which captures, integrates and displays mouse developmental expression data generated world-wide.
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            Our main focus is the Gene Expression Database (GXD), which captures and integrates mouse expression data generated by biomedical researchers worldwide, with particular emphasis on mouse development. Gene expression data can provide researchers with critical insights into the function of genes and the molecular mechanisms of development, differentiation and disease. By combining different types of expression data and adding new data on a daily basis, GXD provides increasingly complete information about expression profiles of transcripts and proteins in wild-type and mutant mice. We work closely with the other Mouse Genome Informatics (MGI) projects to provide the community with integrated access to genotypic, expression and phenotypic, and disease-related data. Thus, one can search for expression data and images in many different ways, using numerous biologically and biomedically relevant parameters.


            Bioinformatics|Developmental Disorders|Genetics and Genomics|Resource Development and Dissemination Bioinformatics|Developmental Disorders|Genetics and Genomics|Resource Development and Dissemination The Ringwald Lab Associate Professor
            Robinson Peter Robinson, M.D., MSc. Farmington, CT
            Develops algorithms and software for the analysis of exome and genome sequences.
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            Peter Robinson studied Mathematics and Computer Science at Columbia University and Medicine at the University of Pennsylvania. He completed training as a Pediatrician at the Charité University Hospital in Berlin, Germany.  His group developed the Human Phenotype Ontology (HPO), which is now an international standard for computation over human disease that is used by the Sanger Institute, several NIH-funded groups including the Undiagnosed Diseases Program, Genome Canada, the rare diseases section of the UK's 100,000 Genomes Project, and many others. The group develops algorithms and software for the analysis of exome and genome sequences and has used whole-exome sequencing and other methods to identify a number of novel disease genes, including CA8, PIGV, PIGO, PGAP3, IL-21R, PIGT, and PGAP2. 

            Visit the Robinson Lab on Github

            Bioinformatics|Computational Biology|Genetics and Genomics Bioinformatics|Computational Biology|Genetics and Genomics The Robinson Lab Professor

            Paul Robson, Ph.D.

            Associate Professor and Director, Single Cell Biology

            Farmington, CT

              207-288-6594

              Robson Paul Robson, Ph.D. Farmington, CT
              Areas of expertise include single cell transcriptomics, primate/human early embryonic development, maternal-fetal medicine, fetal programming, pluripotent cell biology, regulatory networks, tumor heterogeneity, circulating tumor cells.
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              Areas of expertise include single cell transcriptomics, primate/human early embryonic development, maternal-fetal medicine, fetal programming, pluripotent cell biology, regulatory networks, tumor heterogeneity, circulating tumor cells.

              Single Cell Biology Lab



                Paul Robson on orcid 

              Genetics and Genomics|Cancer Genetics and Genomics|Cancer Associate Professor
              Roopenian Derry Roopenian, Ph.D. Bar Harbor, ME
              Conducts research to understand why the immune system causes autoimmune diseases and to devise methods to predict and treat them.
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              The overall goals of our laboratory are to understand why the immune system causes autoimmune diseases and to devise methods to predict and treat them. We develop and use mouse strains that provide models for human diseases such as lupus, rheumatoid arthritis and epidermolysis bullosa. We use a combination of genetics, molecular biological and cellular immunological tools to dissect the molecular and cellular processes that cause these diseases. Finally, we study the mechanisms that affect the persistence of antibodies and antibody-based therapeutics. The information gained from all of these approaches is then used to devise possible therapeutic approaches that can be translated to human treatments.

              Complex Traits|Resource Development and Dissemination|Computational Biology|Immune Disorders Complex Traits|Resource Development and Dissemination|Computational Biology|Immune Disorders The Roopenian Lab Professor
              Rosenthal Nadia Rosenthal, Ph.D., F.Med.Sci Bar Harbor, ME
              Global leader in the use of targeted mutagenesis in mice to investigate muscle development, disease and repair.
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              Rosenthal’s research uses mammalian genetics to explore the embryonic development of heart and skeletal muscle and the regeneration of adult tissues. She focuses on muscle and cardiac developmental genetics and the role of growth factors, stem cells and the immune system in tissue regeneration.

              She is a global leader in the use of targeted mutagenesis in mice to investigate muscle development, disease and repair, and is a participant in EUCOMM, the European Conditional Mouse Mutagenesis Program, where she coordinates the selection and production of new Cre driver strains for the international mouse genetics community.

              After earning her Ph.D. in biochemistry at Harvard Medical School, she started collaborating with JAX researchers, developing her longstanding focus on mammalian genetics using the mouse as model. As her career progressed, through faculty appointments at Harvard Medical School and Boston University School of Medicine, Rosenthal’s network with the JAX faculty and Board of Trustees continued to grow.In 2001 Rosenthal moved to Rome to establish the mouse biology program for the European Molecular Biology Laboratory (EMBL). 

              While maintaining leadership of the EMBL program, Rosenthal joined Imperial College, London in 2005 as Director of Science for the Harefield Heart Science Center and Chair in Cardiovascular Science, and in 2009 established ARMI at Monash University, which now leads Australia in biomedical research grants. She established the first non-European membership in EMBL for Australia, coordinating partner laboratories around the country, and was elected Scientific Head of EMBL Australia in 2010. She joined The Jackson Laboratory’s Board of Scientific Counselors in 2011, before becoming Scientific Director in 2015.

              Rosenthal’s many awards and honors include Fellow of the Academy of Medical Sciences, U.K. (2014), Doctors Honoris Causa from the Pierre and Marie Curie University in Paris (2009) and the University of Amsterdam (2010), the Ferrari-Soave Prize in Cell Biology from the University of Torino (2002) and an American Heart Association Established Investigator Award (1991-1996).

              Developmental Disorders|Genetics and Genomics|Aging|Neurodegenerative and Neuromuscular Diseases Developmental Disorders|Genetics and Genomics|Aging|Neurodegenerative and Neuromuscular Diseases The Rosenthal Lab Leadership|Professor

              Yijun Ruan, Ph.D.

              Professor, The Florine Deschenes Roux Chair and Director of Genome Sciences

              Farmington, CT

              860-837-2484

              Ruan Yijun Ruan, Ph.D. Farmington, CT
              Elucidates the structures and dynamics of DNA elements in complex genomes, including physical three-dimensional structures.
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              My primary interest is to elucidate the structures and dynamics of all functional DNA elements in complex genomes through DNA sequencing analysis of genetic variations in genomes and transcriptomes. To facilitate such understanding, my lab and I contribute to the technology development for high-throughput DNA sequencing and mapping methodologies, including the paired-end-tag (PET) sequencing strategy for RNA-PET/Seq, ChIP-PET/Seq, DNA-PET and ChIA-PET analysis. We are applying these sequencing-based methodologies to address complex genetic questions between normal versus disease states. A specific interest is to apply ChIA-PET and related methodologies to understand the three-dimensional (3-D) higher-order structures of chromosomal folding conformation and their impact on nuclear processes, such as gene transcription regulation and DNA replication.

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              Genetics and Genomics Genetics and Genomics The Ruan Lab Professor
              Serreze David Serreze, Ph.D. Bar Harbor, ME
              Researches the genetic basis for immunological tolerance to endogenous (own) proteins, and the defects that can lead to autoimmune diseases such as type 1 diabetes (T1D).
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              Our primary research interest is to understand the genetic basis for immunological tolerance to endogenous proteins. Defects in these mechanisms lead to many debilitating autoimmune diseases, of which type 1 diabetes (T1D) is one of the most serious. In both humans and NOD mice, T1D results when insulin-producing pancreatic ß-cells are destroyed by autoreactive T-cell responses. Thus, insights into the genetic mechanisms responsible for the normal maintenance of immunological tolerance can be gained by identifying the pathogenic basis of T1D in NOD mice.

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              Immune Disorders|Diabetes and Obesity|Genetics and Genomics|Complex Traits Immune Disorders|Diabetes and Obesity|Genetics and Genomics|Complex Traits The Serreze Lab Professor
              Shultz Lenny Shultz, Ph.D. Bar Harbor, ME
              Investigates human immunological diseases and malignancy through the development and leveraging of novel humanized mouse models
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              Complex biological processes often require in vivo analysis. A fundamental understanding of many biological processes in humans has stemmed from experimental studies in animal models, particularly in laboratory mice. For several decades, our lab has studied the molecular and cellular basis for pathological changes caused by spontaneous mutations that disrupt the development or regulation of the murine hematopoietic and immune systems.  This knowledge has increased our understanding of human disease. Certain mutations result in severe combined immunodeficiency disease (SCID). We have applied the knowledge gained in our studies of SCID mice to optimize them to serve as hosts for human normal and malignant cells and tissues. There is a growing need for animal models to carry out research studies without putting human individuals at risk. We have developed SCID mouse models that support high levels of engraftment with human cells and tissues to overcome these limitations. We have collaborated nationally and internationally with colleagues to develop improved humanized mouse models and optimize the technologies used for engraftment of normal and malignant human cells and tissues. Our research has leveraged these models for translational studies on human hematopoiesis, immunity, autoimmunity, infectious diseases, diabetes, regenerative medicine and cancer.

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              Genetics and Genomics|Resource Development and Dissemination|Immune Disorders|Cancer Genetics and Genomics|Resource Development and Dissemination|Immune Disorders|Cancer The Shultz Lab Professor

              Bill Skarnes, Ph.D.

              Professor and Director, Cellular Engineering

              Farmington, CT

                  Skarnes Bill Skarnes, Ph.D. Farmington, CT
                  Bill's laboratory is currently exploiting new genome-editing technology to study gene function and to model disease in human stem cells.
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                  Bill's laboratory is currently exploiting new genome-editing technology to study gene function and to model disease in human stem cells.

                  Bill received his BSc and MSc in Microbiology and Immunology from McGill University in Montreal, Canada. In 1992, he was awarded his Ph.D. in Molecular and Medical Genetics from the University of Toronto where he pioneered gene-trapping technology in mouse embryonic stem (ES) cells. Following his postdoctoral training with Rosa Beddington in Edinburgh, Bill was a group leader at the BBSRC Centre for Genome Research in Edinburgh.

                  In 1997, Bill took up an appointment as an Assistant Professor at the University of California at Berkeley. Here, his laboratory demonstrated the value of large-scale mutant ES cell resources for gene-based, phenotype-driven screens in mice. With colleagues in the Bay Area, Bill initiated the BayGenomics programme, the first large public gene trap resource.

                  From 2003 to 2016 Bill led the Mouse Developmental Genetics and ES Cell Mutagenesis teams at the Sanger Center that established a high-throughput pipeline for the production of many thousands of targeted gene mutations in mouse ES cells for EUCOMM (European Conditional Mouse Mutagenesis Program) and KOMP (Knockout Mouse Project) with funding from the European Union and National Institutes of Health . This mutant ES cell resource is the foundation for ongoing efforts by theInternational Mouse Phenotyping Consortium to elucidate the function of all 20,000 genes in the mouse.

                  Professor
                  Stitzel Michael Stitzel, Ph.D. Farmington, CT
                  Researches human pancreatic islet cells and the genetic and environmental bases of type 2 diabetes.
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                  Type 2 diabetes is a disease of genes and environment. My laboratory studies the epigenome of human pancreatic islets and their developmental precursor cells. One aim is to use the epigenome as a read-out of effects of type 2 diabetes genetic variants on islet gene expression programs and function. Emerging evidence suggests that normal or disease-predisposing conditions can actually alter a cell's epigenome and lead to abnormal cellular functions. To this end, my lab is investigating how the islet epigenome is altered under different stimulatory and stress conditions. Finally, we are pursuing targeted modification of cells’ epigenomes to facilitate production of bona fide pancreatic islet cells from pluripotent stem cells or other terminally differentiated cells.

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                  Genetics and Genomics|Developmental Disorders|Aging|Diabetes and Obesity Genetics and Genomics|Developmental Disorders|Aging|Diabetes and Obesity The Stitzel Lab Assistant Professor
                  Sundberg John Sundberg, Diplomat ACVP, D.V.M., Ph.D. Bar Harbor, ME
                  Veterinary pathologist contributing to many aspects of disease research at JAX, with a research program focusing on genetic skin diseases.
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                  There is an old saying that "pathology is the mother of medicine." Diseases, and more specifically the discipline of studying diseases (pathology), are why we have medicine and biomedical research. Correctly identifying a disease and the various processes each disease undergoes as it develops is the basis of most work done at The Jackson Laboratory. Through a collaborative effort of scientists in our Jackson Aging Center, we are identifying strain-specific diseases in 32 heavily used inbred strains of mice and, using modern genetic technologies, are mapping the genes responsible for many of these diseases. As humans get similar diseases as they age, this information will be vitally important to studying complex genetic diseases associated with aging. 

                  Alopecia areata, an autoimmune disease featuring hair loss, is a long-term focus of our laboratory group.We have identified four regions of the mouse genome that contain susceptibility genes for alopecia areata and have identified a critical gene in the primary effect or cells. We are also characterizing how drug targets change during the development and progression of the disease and are working to make new diagnostic and prognostic tools available to the medical community. We also work on projects investigating chronic proliferative dermatitis and B6 alopecia as well as characterizing mutant mice with hair medulla defects and a new spontaneous mutant with blistering of the skin.

                  Skin Disease|Genetics and Genomics|Resource Development and Dissemination Skin Disease|Genetics and Genomics|Resource Development and Dissemination The Sundberg Lab Professor
                  Tarchini Basile Tarchini, Ph.D. Bar Harbor, ME
                  Investigating inner ear development, focusing on the role of cytoskeleton polarization in sensory function and hearing loss, with a goal to inform therapies for sensory cell regeneration.
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                  Fundamental to our interaction with the world, hearing and balance require 'hair cells' in the inner ear to transduce sound, gravity or head movements into electrical impulses relayed to the brain. Our research aims to unravel the developmental mechanisms that give hair cells their characteristic shape to enable perception. Sensory ability arises through a morphogenetic process whereby intricate cytoskeleton polarization produces and orients the stereocilia bundle, the cell compartment where transduction occurs. How multiple levels of polarity are implemented and interconnected during hair cell differentiation remains largely unknown. Understanding morphogenesis in molecular detail will aid the comprehension and potential treatment of hereditary hearing loss. Furthermore, studying cytoskeleton polarization will inform emerging therapies aimed at regenerating hair cells lost to injury or disease during life, where new bundles must be developed de novo.

                  Developmental Disorders|Genetics and Genomics Developmental Disorders|Genetics and Genomics The Tarchini Lab Assistant Professor
                  Tewhey Ryan Tewhey, Ph.D. Bar Harbor, ME
                  Identifying the precise genetic mechanisms for complex traits and disease risk
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                  The past decade has seen a transformational change in our understanding of the human genome and the role it plays in influencing disease risk. Large-­scale projects such as Encyclopedia of DNA Elements (ENCODE) have identified which non-­coding regions correlate with gene regulatory function. Furthermore, the proliferation of genome wide association studies (GWAS) and scans for recent positive selection have identified thousands of loci that influence human health. Taken together, these efforts show the predominant contributors of heritability for complex phenotypes are common polymorphisms that reside within non-­coding regions of the genome. However, despite our progress in mapping cis-­regulatory elements (CREs) and genetic signatures correlated with disease, very few examples exist that mechanistically link genotypic variation to disease risk. This gap in our understanding is based on our inability to understand the sequence context of active CREs and their targets, without which it is difficult to identify single nucleotide variants that directly modulate gene expression. Thus, given the correct technological advances each disease association can become an untapped entry point that has the potential to transform our understanding of disease etiology.

                  The mission of our research group is to (1) characterize and learn the grammar of cis-regulatory elements, in both mouse and human models, using novel technological approaches such as high-throughput reporter assays and CRISPR based screens of non-coding regions in the genome. (2) Build upon the knowledge from genome wide association studies and leverage this resource of genetic risk to disease in human populations to construct better animal models that precisely reflect disease phenotypes.

                  Bioinformatics|Complex Traits|Computational Biology|Genetics and Genomics Bioinformatics|Complex Traits|Computational Biology|Genetics and Genomics Assistant Professor
                  Trowbridge Jennifer Trowbridge, Ph.D. Bar Harbor, ME
                  Researches regulation of stem cells in the blood in normal development, aging and leukemia transformation.
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                  The Trowbridge laboratory studies cell fate regulation within the hematopoietic system. Our current focus is on the epigenetic regulation of hematopoietic stem cell (HSC) and progenitor cell lineage commitment in three contexts: (1) normal blood development and maintenance, (2) alterations that occur during the process of aging, and (3) alterations that occur during the process of transformation giving rise to leukemia. Our ultimate goal is to reveal epigenetic patterns and processes that are uniquely deregulated during aging and/or transformation, which can be used to identify novel biomarkers of disease and targets for development of therapeutics.

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                  Genetics and Genomics|Cancer|Aging|Immune Disorders Genetics and Genomics|Cancer|Aging|Immune Disorders The Trowbridge Lab Assistant Professor
                  Ucar Duygu Ucar, Ph.D. Farmington, CT
                  Develops computational models using genome datasets to study gene regulation and identify hypotheses for genomic medicine.
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                  Next-generation sequencing technologies have revolutionized biological research and provided unique opportunities to study broad and novel questions about the regulation of gene expression. With these technologies, there has been an exponential increase in the types and amount of high-throughput datasets pertaining to the dynamics of gene expression. These data include gene expression data and genome-wide maps of nucleosome occupancy and open chromatin, epigenetic marks and transcription factor binding sites in cells and organisms under various experimental conditions. In my lab, we develop computational models to take advantage of genomics datasets to study the dynamics and mechanisms of transcriptional gene regulation and identify testable hypotheses for genomic medicine.

                  Visit the Ucar Personal Lab Site



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                  Computational Biology|Aging|Diabetes and Obesity|Genetics and Genomics Computational Biology|Aging|Diabetes and Obesity|Genetics and Genomics The Ucar Lab Assistant Professor
                  Unutmaz Derya Unutmaz, M.D. Farmington, CT
                  Researches the mechanisms of human T cell differentiation, activation and regulation in the contexts of normal immune response, diseases and aging.
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                  Our research primarily focuses on decoding the differentiation, activation and regulation of human T cells for optimal immune responses to infectious diseases and their perturbations during chronic diseases or aging. We have contributed to the understanding of how T cell subsets are disrupted during human diseases, especially during HIV infection. Our lab has made several seminal discoveries about the diversity and mechanisms of immune suppression mediated by regulatory T cells and effect or functions of human Th17 cell subsets.

                  Immune Disorders|Genetics and Genomics Immune Disorders|Genetics and Genomics The Unutmaz Lab Professor

                  Roel Verhaak, Ph.D.

                  Professor and Associate Director of Computational Biology

                  Farmington, CT

                  860-837-2140

                  Verhaak Roel Verhaak, Ph.D. Farmington, CT
                  Brain tumors, sequencing, computational biology.
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                  We are a computational cancer biology lab with a research focus on the analysis of cancer genomics data to improve our understanding of cancer biology. We have a specialized research interest in understanding disease progression of brain tumors, particularly glioblastoma and glioma. We mostly use high throughput sequencing and computational analysis in our research.

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                  Cancer|Bioinformatics|Computational Biology|Genetics and Genomics Cancer|Bioinformatics|Computational Biology|Genetics and Genomics The Verhaak Lab Professor
                  Weinstock Erica Weinstock, Ph.D. Farmington, CT Infectious Disease Research|Genetics and Genomics|Diabetes and Obesity|Aging Infectious Disease Research|Genetics and Genomics|Diabetes and Obesity|Aging The Weinstock Lab Senior Research Scientist

                  George Weinstock, Ph.D.

                  Professor, Evnin Family Chair and Director of Microbial Genomics

                  Farmington, CT

                  860-837-2420

                  Weinstock George Weinstock, Ph.D. Farmington, CT
                  Leverages advanced technologies to investigate infectious diseases, human and other mammalian microbiomes, and their clinical impact.
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                  In the last decade, leaps in DNA sequencing technologies have transformed our ability to collect and analyze genomic information. This revolution has opened up entirely new areas of study from human to microbial and infectious disease research. Currently, understanding the microbiome (the vast collection of microbes in our body with which we coexist), its interactions with its host (us) and its contributions to health and disease is a vital new research area that he is focusing on. The Weinstock Laboratory leverages advanced technologies to investigate infectious diseases and mammalian microbiomes.

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                  Infectious Disease Research|Cancer|Genetics and Genomics|Immune Disorders Infectious Disease Research|Cancer|Genetics and Genomics|Immune Disorders The Weinstock Lab Professor
                  Williams Adam Williams, Ph.D. Farmington, CT
                  Conducts research that bridges immunology, genomics research and bioinformatics to develop a deeper understanding of asthma pathogenesis.
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                  Allergic diseases, particularly asthma, represent a major public health problem in developed countries, yet there are many aspects of disease pathology that we do not yet understand. My laboratory seeks to bridge immunology, genomic research and bioinformatics to develop a deeper understanding of asthma pathogenesis. Our specific focus is on altering the function of specific cell types that control immune responses to allergens, including immune cells known as T helper cells and the epithelial cells that line the airway, allowing accurate and early diagnosis of the disease as well as the identification of novel targets for therapeutic intervention.


                  Genetics and Genomics|Immune Disorders Genetics and Genomics|Immune Disorders The Williams Lab Assistant Professor

                  CZ Zhang, M.D., Ph.D.

                  Director, Cytogenetics Laboratory and Senior Research Scientist

                  Farmington, CT

                  860-837-2445

                    Zhang CZ Zhang, M.D., Ph.D. Farmington, CT
                    My studies focus on structural variations in the human genomes, molecular mechanisms of human diseases and translational medicine.
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                    Structural variations including copy number variations (CNVs) in the human genome have been suggested to play important roles in human evolution, genetic diversity, disease susceptibility and pathogenesis. Our laboratory focuses on the development and application of state-of-the-art technologies to study the structure variations and functions of human genomes, and to understand the molecular mechanisms of human diseases.  In addition, we provide Clinical Cytogenetics and Molecular Genetics services and conduct translational research for precision medicine at our CLIA-certified Clinical Laboratory. 

                    The Lee Lab Senior Research Scientist
                    Zhang Zhong-wei Zhang, Ph.D. Bar Harbor, ME
                    Studying the development and function of neural circuits and dysfunctions related to autism spectrum disorders.
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                    Our laboratory studies the development and function of neural circuits in the brain with the goal of elucidating the mechanisms of developmental brain disorders. We use a variety of experimental approaches, including molecular genetics, electrophysiology, anatomy and behavior analysis. Two major research focuses are 1) mechanisms underlying pruning and strengthening of synapses during early life; and 2) dysfunction of neural circuits in genetic models of autism spectrum disorders.


                    Genetics and Genomics|Behavioral Disorders|Developmental Disorders Genetics and Genomics|Behavioral Disorders|Developmental Disorders The Zhang Lab Associate Professor