A genetic mutation in the alpha-catenin 1 gene (CTNNA1) causes a butterfly-shaped pigment accumulation in the macula of the eye, leading to severe vision loss. The finding may have relevance to understanding macular degenerative diseases.
Researchers mapped the topological structure of the human genome, revealing how proteins like CTCF and cohesin organize genes for proper transcription. The findings provide new insights into the relationship between genome architecture and gene regulation, with potential implications for understanding genetic diseases.
Researchers have developed a new mouse model for spinal muscular atrophy that responds to therapy, allowing for post-symptomatic treatment and potentially improving outcomes for patients. The treatment, an antisense oligonucleotide, restores motor unit function in the muscles even after symptoms have begun.
A new system is being developed to understand the three-dimensional structure of the human genome, which is intricately looped and packed into microscopic nuclei. The Nucleome Positioning System (NPS) will deliver complex interaction network maps that can provide insight into gene expression in normal development and disease.
A mutation in a key enzyme affects sphingolipid levels, leading to neurodegeneration. Researchers found that increased 20-carbon sphingolipids cause problems with neuronal membranes.
A massive research project has revealed widespread structural variation in the human genome, including copy number variants and insertions/deletions of DNA segments. The findings underscore the significant role of these variations in determining gene expression and disease risk.
The National Institute on Aging has awarded a grant of $3.567M to study mechanisms of Alzheimer's disease, with a focus on immune system cells that cause synapse damage.
Krishnakumar Kizhatil has been awarded the prestigious Lewis Rudin Glaucoma Prize for his research on Schlemm's canal, a unique vessel that plays a key role in glaucoma. The prize recognizes Kizhatil's work as a major breakthrough in understanding the molecular basis of intraocular pressure elevation and its link to glaucoma.
A five-year, $9.97M grant will establish a new Center for Precision Genomics at JAX, leveraging the lab's expertise in mammalian genetics and disease modeling to develop precision models of disease. The Center will accelerate translation to medical benefit through global collaborations and shared resources.
A $1.5 million gift will support research in spinal muscular atrophy with respiratory distress (SMARD), a rare condition affecting fewer than 70 reported cases worldwide. The funding will enable the development of effective treatments and therapies for children impacted by this devastating disease.
Researchers have identified five recurrent fusion genes in gastric cancers, which lead to increased susceptibility to damage and diminished healing. The study also found that these fusion genes promote invasive tendencies in cells, aiding in cancer progression.
Danitza Nébor, a Jackson Laboratory postdoctoral associate, is driven by her personal connection to sickle-cell disease. She searches for genetic modifiers to reduce the severity of the disease in patients with two copies of the sickle-cell gene.
Researchers have developed an efficient method to deliver CRISPR/Cas9 system using electroporation, increasing genome editing speed and throughput in laboratory mice. This technique enables the creation of mouse models of human diseases with unprecedented efficiency and precision.
The Jackson Laboratory will receive a $100,000 grant from The Arthur Vining Davis Foundations to support its 'Teaching the Genome Generation' program, which provides hands-on lab experience for high school science and math teachers. This program aims to prepare students for careers in genome-based healthcare.
A JAX research team discovered a link between mistranslation during protein synthesis and misfolded proteins in the heart, contributing to cardiac diseases like desmin-related cardiomyopathy and systemic amyloidosis. Mistranslation can lead to cell death and impaired heart function.
Researchers have identified a type of adult lung stem cell that contributes to lung regeneration after damage. The study found that these cells, known as p63+/Krt5+, proliferate upon injury and form new alveoli near sites of inflammation, highlighting their potential for therapeutic strategies.
The Jackson Laboratory will establish a new Neurobehavioral Biometry Center with a $1 million pledge from the Cornelia Cogswell Rossi Foundation. The Center aims to accelerate research in neurological and neurobehavioral disorders by assessing behavior related to disease characteristics and therapy responses.
Researchers at Jackson Laboratory pinpoint a new mechanism behind neurodegeneration in mice, linked to a mutation in the tRNA gene n-Tr20. The study reveals that individual tRNA genes can be tissue-specifically expressed, leading to disease or modifying phenotypes.
The Jackson Laboratory Cancer Center has renewed its NCI grant for another year, solidifying its position as a world-class institution in multidisciplinary cancer research. The center supports innovative projects and collaborates with major academic medical centers to develop precise interventions for preventing cancer progression.
Researchers propose benchmarks to substantiate successful in vitro development of germline cells in mouse models. They emphasize the need for rigorous scientific standards due to the critical role of germ cells in reproduction.
Jackson Laboratory Assistant Professors Jennifer Trowbridge and Chengkai Dai have received federal research grants to investigate acute myeloid leukemia and metformin's anti-cancer effects. They aim to elucidate specific problems in key areas of cancer research.
Researchers at JAX Laboratory have identified a protein involved in both wound healing and tumor growth as a potential therapeutic target. The study found that manipulating this protein could stimulate healing in wound patients while dialing back cancerous proliferation.
Researchers develop genetically engineered mice with inherited brachyury gene change to study chordoma development. The mice will be made available to scientists through The Jackson Laboratory's repository.
The National Cancer Institute has awarded a three-year grant of $2.2 million to Professor Yijun Ruan for his research on noncoding RNAs in cancer and other diseases. The grant aims to identify novel ncRNAs and their interactions with DNA, which could lead to diagnostic biomarkers and new genomic therapeutic targets.
Dr. Jeffrey Chuang has been awarded a two-year grant to investigate how RNA interacts with proteins to change gene expression in human diseases such as cancer and muscular dystrophy. His research aims to decipher the root causes of these diseases using new mathematical and computational approaches.
The Jackson Laboratory will receive a five-year, $7.5 million grant to develop new mouse models and tumor repository for cancer genomics research. The collaboration with Seoul National University aims to advance individualized cancer diagnosis and treatment.
Researchers identified a SNP in Cyfip2 associated with cocaine response, highlighting the need for genetic quality control in mouse populations. The study used C57BL/6J and 6N mice substrains developed over nearly a century.
Researchers at The Jackson Laboratory identified a molecule that prevents repair of some cancer cells, providing a potential new approach to cancer treatment. The molecule, DIDS, blocks the DNA repair action in chronic lymphocytic leukemia (CLL), causing cancer cells to die while leaving healthy cells unaffected.
Douglas Coleman, a retired Jackson Laboratory scientist, has won the Frontiers of Knowledge Award in Biomedicine from the BBVA Foundation and the King Faisal International Prize in Medicine. His work, alongside Jeffrey Friedman's, revealed chemical and genetic factors involved in appetite control and obesity.
Researchers have provided definitive evidence that NMDAR receptors are crucial for pruning synapses in newborn mammals' brains. This discovery sheds new light on the neural basis of autism and schizophrenia. The study used a mouse model with brain cells lacking or containing NMDARs to demonstrate the receptor's direct role in synaptic ...
Researchers found a genetic trade-off between female sexual maturation and longevity, where delayed reproduction is associated with longer life. Mice with lower IGF1 levels reached sexual maturity later and lived longer.
Researchers found that targeted x-ray treatment can prevent glaucoma in mice by inhibiting the entry of damaging cells into the optic nerve and retina. This discovery raises hope for a new treatment approach for humans, where lower doses of radiation could be used to block cell entry and prevent blindness.
MassGeneral Hospital for Children researchers found 27 new candidate genes for CDH using sophisticated data-filtering strategy. The findings may lead to development of new diagnostics and preventive treatments for the deadly birth defect.
Jackson Laboratory researchers discovered a defect in RNA splicing process that contributes to neurological disease. A mutation in one copy of the U2 snRNA gene causes neurodegeneration, leading to movement problems and early neuron death in mice.
The new iGXT Platform combines genetically engineered mouse models with patient-derived tumor xenograft models for more accurate cancer drug testing. The partnership aims to improve treatment outcomes by identifying effective biomarkers and personalized therapy options.
Researchers have created a genome-wide map of most inbred mouse strains, finding that they represent only limited genetic diversity. The team hopes to expand this diversity by adding wild mouse populations, which could lead to more effective translation of experimental results to humans.
Scientists discovered a gene linked to angle-closure glaucoma (ACG), a medical emergency that can cause rapid vision loss. The gene's activity is associated with abnormal eye development and increased intraocular pressure.
A study by Jackson Laboratory researchers reveals that mutations in the TDRD7 gene can cause juvenile cataracts and glaucoma, linked to a malfunctioning protein affecting eye lens development. The disorder disrupts stress granule production, leaving tissues susceptible to oxidative damage.
Researchers identified molecular signatures of early glaucoma progression using clustered gene expression analysis. These findings suggest activation of the complement cascade and endothelin-2 may contribute to disease development.
A study by Dana-Farber Cancer Institute researchers has identified a regulatory defect that drives lupus. Correcting this defect may represent an effective therapeutic approach to systemic lupus erythematosus-like autoimmune disease.
A Jackson Laboratory research team has identified a mutation in a gene essential for correct protein-processing, which disrupts cellular development and growth. The study found that defects in the chaperone proteins lead to photoreceptor degeneration, central nervous system abnormalities, and male infertility.
Researchers have developed a new mouse variety that approximates human genetic diversity, allowing for more accurate testing of chemotherapeutic drugs. The study aims to reduce the risk of adverse reactions and improve treatment outcomes for cancer patients.
Dr. Jeffrey Friedman of Rockefeller University identified leptin as the 'satiety factor' behind obesity and type 2 diabetes, shedding light on chemical and genetic factors involved in the condition. The discovery has opened possibilities for future pharmaceutical treatments, influencing research worldwide.
Researchers identified a gene involved in inflammatory response that could hold key to treating CML, a lethal cancer. A drug combination targeting this gene showed improved therapeutic effect on CML in mice.
A study led by Professor Derry Roopenian found that a blocked protein called Interleukin 21 prevents systemic lupus erythematosus (SLE) in mice. The researchers also demonstrated the importance of IL21 signaling in SLE progression, suggesting that interrupting this process could be an effective therapeutic option for human SLE patients.
Dr. David Serreze receives JDRF's Grodsky award for his outstanding contributions to the study of diabetic immunology. The award recognizes his leadership and innovation in accelerating the pace of diabetes research.
Researchers have used a new type of light microscope to visualize the distribution of H2AX proteins in the cell nucleus, revealing clusters that direct DNA repair after damage. This discovery provides new insights into the complex process of gene repair and its relationship with other nuclear components.
Researchers discovered a new 'helper' compound, dasatinib, that effectively treats some leukemias by targeting both BCR-ABL and SRC kinases. The findings suggest addressing both pathways is crucial for optimal treatment outcomes.
Researchers identify 5,400 active genes in mouse eggs, including unique ones specific to egg cells, and find evidence of rapid change in critical mammalian genes. This study provides new information on the transition from unfertilized egg to fertilized embryo.
Researchers from Jackson Laboratory found that high BMI is not directly associated with a high percentage of fat, suggesting the need for more refined measurements to distinguish between large body mass and true obesity. The study's results have implications for understanding the complex interplay of genetic factors in health disorders.