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.
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.
Researchers at JAX and the University of Texas Southwestern Medical Center have identified two genes that play significant roles in maintaining regular sleep.
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.
Yijun Ruan, Ph.D., received a three-year, $150,000 grant from the National Human Genome Research Institute (NHGRI) to present workshops on a technique for analyzing genomes known as ChIA-PET (for Chromatin Interaction Analysis Using Paired-End Tag Sequencing).
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.
Working with research partners, the Jackson Laboratory genetically engineers new mouse models, from construct creation and microinjection to evaluation and characterization.
CHDI Foundation, The Jackson Laboratory, and PsychoGenics, Inc. have developed a new field guide for researchers studying Huntington's disease.
The term epilepsy refers to a spectrum of brain disorders resulting from a disturbance of the normal pattern of neuron activity.
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.
The Jackson Laboratory develops models for Friedreich’s ataxia that are well-standardized, genetically stable, and available to the scientific community.