JAX Associate Professor Zhong-wei Zhang explores the effects of abnormal alternative RNA splicing during neurodevelopment, which can lead to increased susceptibility to seizures in adults.
The genome editing tool, Casilio, can be used to efficiently remove methyl groups from DNA and activate expression of methylation-silenced genes in experimental systems. Casilio was created by Jackson Laboratory Assistant Professor Albert Cheng.
This year, science luminaries came to Maine for an additional special symposium that celebrated the McKusick Short Course's 60th anniversary. The symposium title, “The Future of Human and Experimental Genetics,” foreshadowed the theme of the talks.
Online analysis tool, Protein-RNA Association Strength (PRAS), free for academic researchers.
A research team led by Professor and Janeway Distinguished Chair Robert Braun, Ph.D., and Associate Research Scientist Manju Sharma, Ph.D., found a rare subpopulation of spermatogonial cells expressing a specific protein, EOMES, that appear to represent the elusive long-lived spermatogonial stem cells that support continued spermatogenesis.
JAX postdoctoral associate Frederick Varn, Ph.D., has received a prestigious fellowship from the Jane Coffin Childs Memorial Fund for Medical Research.
An interview with 2019 Chen Award winner Li Jin about his goals for the International Human Phenome Consortium and its value to the research community.
JAX postdoctoral associate Kira Young, Ph.D., has received the ASH Scholar Award from the American Society for Hematology to support her research studying “old blood.” Young is using the award to understand the different types of white blood cells that make up the immune system and how they change as we age.
New genetically diverse mouse populations mirror human genetic variation, providing a powerful new experimental platform to complement human data insights, particularly for complex trait and complex disease research.
New research shows that wild-derived mouse strains show human-like variety in Alzheimer’s gene effects.
Scientists have developed an expanded toolkit that enables investigations of cellular traits at the single cell level at an unprecedented level of detail.
Advances in data resource aggregation and analytics will enable the research community to readily identify convergent molecular evidence for novel mechanisms of aging and other health and disease-related processes.
Study: Mice that exercised avoided the kind of damage that in humans has been associated with dementia, stroke and other negative outcomes, despite being fed a western-like diet and gaining significant weight.
There has been an explosion of digital medical data in recent years, taking many forms. Much of the most valuable data—clinical patient data—is currently stored in electronic health record (EHR) systems, providing a theoretical gold mine for large-scale integration and analyses of patient traits, diseases, treatments, progression over time, outcomes and more.
Supported by a recent two-year grant from the National Institutes of Health, JAX researchers are developing a new form of gene intercept methodology to deplete mouse macrophages but not other cells.
A research team led by Nadia Rosenthal, Ph.D., documented large differences in survival, cardiac dilation and scar size among a population of genetically-diverse mice.
A new paper in PNAS offers new insights into the proteins that influence our ability to perceive sound direction and intensity.
Recently developed diversity mouse strains and outbred mouse populations have created research options that parallel or even exceed human genetic diversity.
A recent paper from a team including JAX Professor Se-Jin Lee shows that a signaling pathway once thought to protect heart cells from damage actually promotes breakdown with aging.
A recent Cell paper uses long-read DNA sequencing and other advanced genomics tools and methods to shed light on genomic structural variants.
A complicated three-dimensional network involving proteins and specific DNA sequences helps regulate the expression of genes. New work led by JAX’s Chia-Lin Wei shows how one protein, SOX2, plays a significant role in neural stem cells, affecting many aspects of development and function.
New research shows that proteins work together to enable DNA double-strand breaks during meiosis.
Cancer cells need energy. A lot of it. Their aggressive growth, not surprisingly, is therefore largely fueled by an abnormal metabolism.
A research team led by Basile Tarchini has found two new proteins that are essential to the correct elongation of stereocilia, tiny hair-like cellular protrusions in the inner ear.
A paper published in Molecular Biology of the Cell leads to important implications for both reproductive biology and data science.
Michael L. Stitzel and collaborators thoroughly characterize an important new cell line for type 2 diabetes research.
New research led by Jennifer Trowbridge provides insight into risk factors for clonal hematopoiesis-to-leukemia progression.
A roundup of the latest research news and upcoming courses at The Jackson Laboratory.
Using PDX mouse models, JAX Associate Professor Jeff Chuang has tracked the evolution of triple negative breast cancer cells following administration of common forms of chemotherapy.
A roundup of the latest research news and upcoming courses at The Jackson Laboratory.
JAX researchers find that reducing Hp1bp3 expression mimics age-related cognitive decline through mechanisms reminiscent of aging and Alzheimer's disease
Recently developed outbred mouse populations, such as the diversity outbred (DO) mice at The Jackson Laboratory (JAX), have created research options that parallel or even exceed human genetic diversity. Research with DO mice offers a full range of genetic diversity, and therefore more generalizability of responses across populations.
JAX researchers have developed a growth rate index that helps scientists estimate growth rates of microbial communities.
JAX researcher Ron Korstanje is closer to understanding exactly how bear kidneys recover from the damage caused by hibernation.
A team led by JAX researcher Mauro Costa, Ph.D. has uncovered potential links between genetic heart defects and metabolism in adults. Their findings could be the first steps toward treatments to prevent the progression of heart failure.
JAX researchers have developed a new computational algorithm that is capable of modeling the effects of both stochastic gene expression and cell-to-cell variability in a cell population.
Research into autoimmune mechanisms in type 1 diabetes adds complexity but offers direction for new immune system treatments for patients.
Paper provides important insight for B-cell lymphomagenesis from mouse models to human disease.
$2.2M grant to JAX Professor David Serreze will fund search for new approaches to fighting autoimmune destruction
New JAX research offers insight into how our immune cells are able to tell the difference between helpful bacterial strains and potentially inflammatory or pathogenic strains.
The National Institute of General Medical Sciences has awarded Petko Petkov a four-year grant totaling $1,385,337 to exploit the new methods he has developed to profile and investigate zinc finger proteins and their binding sites.
JAX researchers have demonstrated the ability to target and disrupt specific genes and/or alter their expression levels, which has important implications for both immunology research and clinical treatments.
The five-year grant enables studies exploring ways to boost the hematopoietic system for better regenerative capacity, immune cell function during aging.
UConn, JAX researchers classify 40 subtypes of RGCs and identify additional subtypes, markers and transcription factors.
A new paper further explains the genomic disruption known as the tandem duplicator phenotype (TDP), a common attribute in some of the most deadly cancers of women.
Cancer cell immortality leads to massive tumors, metastatic spread, and potentially re-emergence. Researchers are working to determine how cancer cells achieve immortality.
Jackson Laboratory Assistant Professor Ewelina Bolcun-Filas, Ph.D., is looking at how multiple genetic factors regulating oocyte development determine the differences in each woman’s ovarian reserve.
JAX Associate Professor Jeffrey Chuang, Ph.D., has been awarded a five-year grant totaling $2,650,484 from the National Cancer Institute for research that could pave the way for the first evolution-based approaches to cancer treatment.
Genetically diverse mouse population mirrors humanity in prediabetic genetic changes, point the way to new treatment possibilities.
Postdoctoral Associate Price Dickson, Ph.D., is working to discover the genetic underpinnings that make individuals susceptible or resistant to addiction in the face of chronic stress.
The latest developments in cancer research and their translation to oncology practice offer truly exciting potential for better therapies in the near future.
Structural variants, or SVs, are large DNA sequences that are inserted, inverted, deleted or duplicated within genomes. Finding SVs with short-read seq and analysis methods is difficult, but a new SV identification tool, FusorSV, sets a gold standard for SV detection and analysis.
New research provides an intriguing therapy target for some forms of Charcot-Marie-Tooth disease type 2.
An invisible ally in the fight against cancer? Researchers find evidence that healthy skin microbiomes contain a bacterial strain that helps prevent cancer from growing.
Researchers have found important timing and gene expression differences between the different forms of allodynia (persistent pain following nerve damage).
Researchers recently dove deeper into the biology of human weight fluctuation and insulin resistance than ever before.
A team led by researchers at Boston University and Harvard University, and including JAX Assistant Professor Travis Hinson, M.D., used a newly developed model system, cultured human cardiomyocytes derived from induced pluripotent stem cells (iPSCs), to study the role of titin and other aspects of sarcomere assembly.
A review in the journal Cell Stem Cells by two JAX scientists reports on the latest efforts to isolate and culture the elusive populations of stem cells that most closely resemble very early (two-cell stage) totipotent cells.
A $500,000 gift by an anonymous donor from Connecticut has helped JAX launch the Tallwood Cancer Canine Research Initiative, which is focused on finding cures for human and canine cancers.
A team including JAX Professor Roel Verhaak, Ph.D., investigated genes implicated in self-renewal and therapy resistance in glioblastoma multiforme.
BRCA mutations are well-known cancer risk factors, but a particular genomic perturbation, called tandem duplications , is associated with loss of BRCA1 but not BRCA2.
A research team finds a better way to culture mouse lung progenitor cells so that they can differentiate along all epithelial lineages.
Which mutations drive cancer initiation and, in cases of recurrence, which provided therapy resistance?
Scientists at The Jackson Laboratory and UCONN Health used advance genomic profiling techniques to uncover a distinctive genomic pattern associated with aging of the immune system.
The Roopenian lab has identified cell populations that might shed light on origins of autoimmune diseases.
A recent paper in Immunity describes the complex mechanisms underlying innate lymphoid cell subset differentiation and function.
Receiving a Ph.D. in a scientific field generally involves a lot of very hard work. How does this rigorous process translate to job performance and satisfaction when so many now pursue non-traditional research paths?
Two clinical trials are testing whether vaccination boosts the likelihood of IVF pregnancy.
Does the composition of highly trained athletes’ microbiomes differ from that of other people, and what role might microbes play in the competitive landscape?
Recently, a team led by JAX Professor and Scientific Director Nadia Rosenthal, Ph.D., F.Med.Sci., and Research Scientist James Godwin, Ph.D., explored the role of the immune response in heart regeneration in the axolotl (salamander).
Cardiac macrophages could be key to treating heart disease or damage
Precisely characterizing the resulting mouse strains is crucial for learning the functions and biological mechanisms of the genes.
A team that included JAX researchers Kevin Peterson, Ph.D., and Steve Murray, Ph.D., identified two new mutations implicated in hypoplastic left heart syndrome and described the first known animal models for the disease, providing new insights into its multigenic etiology.
A cancer patient’s genetic profile may influence whether or not he or she will have a toxic response to a given chemotherapy, Jackson Laboratory researchers report in The Pharmacogenomics Journal.
JAX researcher Ewelina Bolcun-Filas, Ph.D., contributed to a study that could advance development of drugs to prevent infertility caused by cancer-treating radiation.
Where do a baby’s first microbes come from and what controls which bugs stick around?
New research shows that combination therapy of vitamin B3 and a fusion gene variant called the Wallerian degeneration slow allele prevented glaucoma in 94 percent of tested eyes.
While the human body's response to potentially carcinogenic stimuli has been extensively investigated, the exact timing and underlying mechanisms of these processes remain unclear.
The knowledge scientists like V. Narry Kim gain studying micro RNA will be useful for translational and applied research in the years ahead.
A trivalent flu vaccine outperforms a monovalent one produced by the same manufacturer, in part by triggering early interferon responses in the blood, according to Jackson Laboratory researchers and their collaborators.
An immune response triggered by high pressure in the eye occurs early in glaucoma and has a protective effect on retinal cells, a Jackson Laboratory (JAX) research team led by Professor and Howard Hughes Medical Institute Investigator Simon W.M. John, Ph.D., reports in the Proceedings of the National Academy of Sciences.
Bacteria swap viruses during intestinal infection in the mouse.
How FcRn interacts with albumin and determines its fate was previously unknown.
Developmental processes may prevent the human heart's ability to regenerate.
JAX Associate Professor Gareth Howell, Ph.D., is teaming up with the University of Rochester Medical Center’s Richard Libby, Ph.D., to determine how the endothelin system contributes to retinal cell death in glaucoma.
Many different mutations linked to Type 2 diabetes all occur in key stretches of active DNA within pancreatic islet cells, interfering with the activity of a master regulator.
The possible role of the microbiome — the bacteria, fungi and viruses living on and in us — in cancer is an intriguing area for research.
In a paper published in Cell Reports, a team of researchers including JAX Assistant Professor Travis Hinson, M.D., report how they used human cell lines in addition to an animal model to study the mechanisms of the PRKAG2 mutation.
In a commentary on the paper also appearing in Nature, Jackson Laboratory Professors Karolina Palucka, M.D., Ph.D., and Jacques Banchereau, Ph.D., show how a four-pronged therapeutic strategy led to complete responses for large tumors.
Using mice spanning a spectrum of ages, a Jackson Laboratory research team led by Assistant Professor Jennifer Trowbridge, Ph.D., investigated changes in the maturation process of hematopoietic stem cells over time.
Researchers at JAX and the University of Texas Southwestern Medical Center have identified two genes that play significant roles in maintaining regular sleep.
A research team led by JAX Assistant Professor Michael Stitzel, Ph.D., isolated single cells from the pancreatic islets of both non-diabetic and type 2 diabetic subjects to obtain transcriptomes for each cell.
New research shows autoimmune events early in life in the spleen can drive later autoimmunity and disease pathology in local tissues.
Work by a team including JAX Assistant Professor Basile Tarchini, Ph.D., is shedding light on the mechanism that directs the assembly of the staircase pattern of the hair bundle.
Scientists have developed and implemented a new microscopy method that allows resolution of three-dimensional structures to 10-20 nm throughout entire cells, in samples up to 10 microns thick.
A form of benign lung tumor known as pulmonary sclerosing hemangioma (PSH) has been shown to share its origin with malignant lung adenocarcinoma.
Researchers led by JAX Professor Peter Robinson, Ph.D., developed “Genomiser,” a new tool that combines machine learning and an algorithm for ranking non-coding variants.
Researchers describe an automated, high-throughput platform that allows simultaneous investigation of genotype, gene expression and DNA methylation at multiple locations in the genomes of single cells.
A long-standing question in the study of thalamic function is whether TRN neurons form GABAergic synapses with other TRN neurons.
Circulating tumor cells in the blood of cancer patients have attracted intense scrutiny because of the potential they offer as easily accessible biomarkers and indicators of therapeutic response.
Vaccines represent some of the most effective preventive medical advances ever. They have greatly reduced or all but eliminated many of our most feared and dangerous infectious diseases and have saved countless lives. And that’s how most people think of them—as preventing infectious diseases by priming the body’s immune system to immediately recognize and eliminate pathogens.
New sequencing tools are uncovering how the unpacked sections of DNA can interact with each other in three-dimensional space, leading to new insights in the relationships between distant sections of DNA.
Despite near-constant assaults from bacteria, the microbial community on your hands is remarkably stable.
Estimates of the precise numbers vary, but it’s widely known that we have several times more microbial cells on and in our bodies than our own cells. And overall those microbial cells express a nearly 30-fold greater variety of protein-encoding genes than ours do, often working in concert with our own systems.
When cells come under environmental stress, they employ a variety of molecular adjustments to survive, new research from The Dai Lab reveals.
The Y chromosome is pretty amazing. In humans, it determines male sex, but for a long time it was given short shrift due to its paucity of protein coding, which some researchers found uninteresting. Furthermore, its abundance of short tandem repeats (STRs) made sequencing and subsequent positioning difficult.
Researchers including Jacques Banchereau of The Jackson Laboratory have uncovered seven major molecular subgroups of patients with systemic lupus erythematosus (SLE), providing an explanation for the failure of treatments for the disease in clinical trials and opening opportunities for new and more targeted treatments of the disease. Their findings are published in the journal Cell.
Vascularization defects contribute to neuron loss in a mouse model for Alzheimer’s disease
In addition to sequence, three-dimensional (3D) genome structure contributes to vital functions, including transcriptional regulation, DNA replication and DNA methylation.
One of the most exciting fields in all of biomedical research right now is oncoimmunology. The premise is simple: Get a cancer patient’s immune system to recognize cancer cells as foreign, as they do a virus or bacterium, and mount a response to kill them.
We carry genetic traits from both our parents. But did you know that we are often healthy even when we have two faulty copies of the same gene?
The processes leading to many neurodegenerative diseases remain unknown despite intense research scrutiny. For example, we still don’t know why, in some people, enough neural cells die to impair movement (in neuromuscular diseases such as amyotrophic lateral sclerosis (ALS)) and cognition (in neurodegenerative diseases such as Alzheimer’s and other dementias).
JAX research provides insight into the role of the western diet in Alzheimer’s disease.
“Microbial dark matter" undoubtedly contains key information about how our microbiome contributes to human health and disease. But how do you study something you can’t see?
Effective interpretation and identification of causative and actionable mutations in disease states is still a major hurdle to the delivery of personalized genomics.
Assistant Professor Zhengqing Ouyang, Ph.D., received a one-year, $100,000 Research Starter Grant in Informatics from the Pharmaceutical Research and Manufacturers of America (PhRMA) Foundation.
In an article published the week in the journal Human Molecular Genetics, Gayle Collin, working in the laboratory of Patsy Nishina at the Jackson Laboratory in Bar Harbor, describes a new murine model of the human vision disorders.
Most cases of amyotrophic lateral sclerosis (ALS) are sporadic, meaning that there is no family history of the disease.
The National Institute of Biomedical Imaging and Bioengineering, an institute of the National Institutes of Health (NIH), awarded Associate Professor Jeffrey Chuang was awarded a three-year, $390,000 grant for “Big Genomic Data Skills Training for Professors.”
In an article published in Nature Genetics in November, Candice Baker and Stephen Murray of JAX Bar Harbor were members of a team investigating genes that may be responsible for heterotaxy in humans.
New multi-institutional group of leading microbiome researchers seeks to deepen our knowledge of the microbiome and apply lessons from this emergent area of research.
Charcot-Marie-Tooth (CMT) diseases are the most common family of inherited diseases called peripheral neuropathies. The junctions between muscles and nerves and the nerves themselves that carry signals between brain and muscles degenerate over time, leading to impaired movement, including balance problems and difficulty walking. CMT diseases have a range of severity but are rarely life-threatening.
As we age, it becomes more difficult to maintain good health, and we become more susceptible to diseases such as cancer, heart disease and stroke with each passing year. That fact seems so basic that it’s surprising that no one really understands the basic mechanisms underlying aging and why the aging process has such a large impact on wellbeing. And as researchers delve deeper into the subject, answers remain elusive.
Retroviruses are known to spread between cells in vitro, but mechanisms for spread in vivo are not well understood. Knowledge of how the spread occurs is important for improving HIV prevention and therapies.
Assistant Professor Gareth Howell, Ph.D., received a two-year grant from the National Institute of Neurological Disorders and Stroke (NINDS) to more accurately model the role of the human complement cascade for disease research.
The single-cell technology, methods and expertise Paul Robson brings to JAX have the potential to advance many of the ongoing research programs.
New research from the University of California Davis and The Jackson Laboratory provides more evidence that patient-derived xenografts (PDXs), human tissues implanted in immunocompromised mice, can provide powerful insight into cancer mechanisms and therapies.
Professor Karolina Palucka, M.D., received an RO1 grant award for “Humanized mouse models to dissect in vivo the interplay between melanoma and the immune system."
Mice that receive sporadic, high-level doses of antibiotics—emulating typical prescriptions for children—experience significant changes in body composition and microbiome.
According to the CDC, approximately 1 in 88 U.S. children has an autism spectrum disorder. Scientists are using mouse models to better understand the disorder.
CHDI Foundation, The Jackson Laboratory, and PsychoGenics, Inc. have developed a new field guide for researchers studying Huntington's disease.
Working with research partners, the Jackson Laboratory genetically engineers new mouse models, from construct creation and microinjection to evaluation and characterization.
The term epilepsy refers to a spectrum of brain disorders resulting from a disturbance of the normal pattern of neuron activity.
The Jackson Laboratory develops models for Friedreich’s ataxia that are well-standardized, genetically stable, and available to the scientific community.
Spinal muscular atrophy (SMA) is a recessive disease and the leading genetic cause of infant and toddler death worldwide, affecting 1 in every 10,000 live births.