Researchers have identified a rare genetic disorder that causes sporadic fevers, skin rashes, and recurring strokes in early childhood. The syndrome is caused by variants in the CECR1 gene, which impede production of a protein vital to healthy blood vessel walls.
Researchers have identified potential therapeutic targets for muscle-invasive bladder cancer, including genes and pathways disrupted in the disease. The study also found similarities between subtypes of bladder cancer and those of other cancers, such as breast, head and neck, and lung cancers.
Researchers found boys raised by two-parent homes had lower rates of adult hypertension; living with one parent increases risk of blood pressure as an adult. The study suggests biologically protective mechanisms developed early life may help prevent high blood pressure later.
A recent study published in Science reveals that comb jellies, a simple aquatic animal, possess complex cell types like neurons and muscles. The analysis of the Mnemiopsis leidyi genome shows that these cells may have evolved independently in comb jellies, after they diverged from other animals.
A genetic variant in the IRF4 gene is linked to reduced melanin production, leading to increased UV radiation sensitivity and conditions like freckling. Researchers also explore the role of epigenetic variation in this trait.
The NIH has awarded $17 million to support genomics research in Africa, enhancing the continent's research capacity and training African genomic scientists. The new grants will study various health conditions important in Africa, including neurological disorders and respiratory diseases.
The Clinical Genome Resource (ClinGen) aims to develop a framework for evaluating genomic variants relevant to disease and patient care. The grants will support the development of standards formats for data deposition and analysis, as well as categorization of clinical relevance for variants.
Researchers are studying rare genetic variants associated with common diseases, such as diabetes and heart disease, in African-Americans, Hispanics, and Native Americans. The goal is to better understand how genetic factors influence disease susceptibility and develop more personalized prevention, diagnoses, and treatment.
The National Human Genome Research Institute has awarded grants to eight research teams to explore nanopore-based DNA sequencing technology. This approach involves threading single DNA strands through tiny pores, allowing for real-time sequencing of individual molecules at low cost.
The NIH-funded program aims to expand and improve newborn healthcare through genomic sequencing. The four grantees will investigate the use of genome and exome sequencing to diagnose disorders and conditions at birth, as well as their clinical and ethical implications.
Researchers at the National Human Genome Research Institute identified biomarkers of kidney damage and demonstrated that antioxidant therapy protected kidney function in mice. These findings offer new tools for monitoring disease progression and may pave the way for clinical trials for patients with methylmalonic acidemia.
The NIH has awarded four new grants to explore the use of genome sequencing in medical care, including informing couples about reproductive risks and detecting genomic alterations that can lead to cancer. The grants total approximately $6.7 million in the first year and aim to advance treatment and improve patient outcomes.
Researchers sequenced DNA of fungi at skin sites to define normal populations and provide framework for investigating fungal skin conditions. The study found that feet, including toenails, heels, and toe webs, contain tremendous diversity of fungi.
Researchers have identified four new regions on the human genome linked to Behcet's disease, which is characterized by inflammation of blood vessels and potential blindness. The study provides insights into genetic factors contributing to the disease and suggests new therapies for treatment.
Researchers have identified three novel genes - CHD4, FBXW7 and SPOP - that are frequently altered in serous endometrial cancer, a rare and aggressive form of uterine cancer. These findings may lead to new therapeutic targets for this devastating disease.
The National Human Genome Research Institute (NHGRI) has awarded $19 million in grants to harness nanoscale technologies to dramatically reduce the cost of DNA sequencing. The goal is to address challenges such as speed, accuracy, and price, enabling widespread use of genomics in research and clinical care.
Researchers have successfully restored the immune systems of some children with SCID using a refined gene therapy approach, eliminating the need for life-long injections. The treatment involves inserting a healthy copy of the ADA gene into bone marrow stem cells, preventing immune-destroying toxicity.
A deadly outbreak of antibiotic-resistant bacteria at NIH's Clinical Center was quelled through collaboration with genomic experts. Genome sequencing revealed the outbreak had a single source, and targeted interventions stopped its spread.
Researchers mapped the normal microbial make-up of healthy humans, identifying over 10,000 species and 8 million unique protein-coding genes contributed by human microbiome.
A recent NIH-led study found that receiving genetic test results does not significantly impact the demand for follow-up health services. The researchers analyzed electronic health records and found no increase in healthcare usage among participants who underwent genetic testing compared to those who did not.
A genome-wide association study reveals eight genetic variants linked to podoconiosis, a painful inflammation of the lower extremities caused by volcanic dust exposure. Wearing shoes can prevent the disease, and those with the gene variants are up to 3 times more likely to become affected.
The NHGRI Genome Sequencing Program will prioritize medical applications and rare inherited diseases over the next four years, with a $416 million investment. The program aims to identify genetic causes of Mendelian disorders and accelerate diagnosis and treatment.
The National Institutes of Health's Therapeutics for Rare and Neglected Diseases (TRND) program has announced its next round of drug development projects. Six new projects will focus on treatments for rare and neglected diseases, including musculoskeletal disorders, cognitive dysfunction disorders, and parasitic worm infections. The TR...
Researchers have created a detailed map of gene expression in the mouse cerebral cortex, which shares 90% of its genes with humans. The atlas provides insight into how genes work in this complex region of the brain, including correlations between specific genes and human diseases such as Parkinson's and Alzheimer's.
Researchers identified the genetic mutation causing Proteus syndrome, leading to spontaneous tissue and bone growth. The discovery offers hope for potential drug therapies and confirms the disease's cause, previously unknown.
A new study by NIH researchers reveals the interaction between telomeres and a toxic protein called progerin that triggers both premature aging syndrome and normal cellular aging. Shortened telomeres lead to increased production of progerin, causing cell damage and activation of programmed aging.
The National Institutes of Health has signed a research and development agreement with two non-profit organizations to develop potential clinical therapies for rare blood cancers. The collaboration aims to bridge the gap between basic research and human testing, with the goal of accelerating the delivery of improved therapies to patients.
Researchers have assembled a collection of thousands of approved drugs to explore additional uses against rare and neglected diseases. The effort aims to find off-label therapies for some 6,000 rare diseases that afflict 25 million Americans.
Researchers from the NIH have completed a comprehensive genome analysis of skin cancer, revealing key mutations that contribute to melanoma. The study identified 16 genes deemed to be melanoma driver mutations, including the oncogene BRAF and the ionotropic glutamate receptor gene GRIN2A.
Researchers identified a new treatment for periodic fever syndrome, targeting the body's immune response. The therapy shows promise in reducing fever and inflammation symptoms without increasing flare-ups, differing from current corticosteroid treatment. A larger clinical trial is planned to validate the findings.
Researchers at the National Institutes of Health's Undiagnosed Diseases Program have identified a novel disorder characterized by progressive and painful arterial calcification affecting the lower extremities. The condition, associated with mutations in the NT5E gene, has been observed in nine individuals from three unrelated families.
Researchers have discovered hundreds of new protein-coding genes and thousands of new non-protein coding RNAs in the fruit fly and roundworm genomes. The studies also identified specific chromatin signatures associated with the regulation of protein-coding genes, revealing how genes work in concert to produce complex biological processes.
Researchers discovered a key mutation in the DNA methyltransferase 3A gene that affects AML treatment prognosis, leading to significantly shorter survival times for patients with the mutation. The study's findings suggest that treating patients with this mutation aggressively may improve their outcomes.
A NIH study identifies 18,000 promoters and 34,000 distal regulatory elements that regulate genes in human pancreatic islet cells. These findings may contribute to a better understanding of the molecular defects underlying type-2 diabetes.
The National Institutes of Health has awarded $42 million to expand eight demonstration projects investigating the link between changes in the human microbiome and health, as part of the Human Microbiome Project. The expanded studies will also support technology development to improve microbiome identification and characterization.
The new HapMap adds more than 1 million SNPs, increasing resolution and helping researchers interpret genome studies. Non-African diversity is largely a subset of African diversity in the updated map.
Researchers discover genetic alterations in the MLL2 gene that account for most cases of Kabuki syndrome, a rare disorder with multiple birth defects and mental retardation. The new DNA sequencing strategy quickly identifies the gene variants responsible for the condition.
The Human Heredity and Health in Africa project will utilize genetic, clinical, and epidemiologic screening tools to identify hereditary and non-hereditary components of risk. The effort aims to build research capacity on the continent and create strong collaborations between African researchers and those globally.
Researchers have published the first genomic collection of human microbes, discovering novel genes and proteins serving key roles in human health and disease. The analysis found nearly twice the amount of microbial diversity as represented by existing public databases.
Researchers have sequenced the complete Neanderthal genome, discovering that up to 2% of present-day human DNA originated from Neanderthals. The study reveals genetic differences between humans and Neanderthals, including variations in genes related to cognitive development and skin morphology.
Researchers identified over 800 genes involved in male zebra finch song learning and found complex gene regulatory networks in the brain. The study's findings may help diagnose and treat conditions like stuttering and autism.
The Genetics/Genomics Competency Center is a free, Web-based resource providing materials on genetics and genomics for educators training nurses and physician assistants. The tool helps match existing educational resources with competencies for health professionals.
The Cancer Genome Atlas reveals four molecular subtypes of glioblastoma multiforme (GBM), the most common form of malignant brain cancer in adults. Researchers found that response to chemotherapy and radiation differed by subtype, with some subtypes experiencing a 50% slower disease progression.
A new study found that carriers of Gaucher disease face a significantly higher risk of developing Parkinson's disease, with the risk being 5 times greater than the general public. The study also found that GBA alterations increase the likelihood of early disease onset.
The NIH has awarded $45 million to four new Centers of Excellence in Genomic Science, including two new centers and two existing ones. The new centers will focus on psychiatric disorders and gene regulation, while the existing centers will continue to advance genomic research. Researchers at the University of North Carolina, University...
Researchers have identified a new group of genetic mutations involved in melanoma, with ERBB4 being the most frequently mutated PTK gene. The discovery could lead to specific therapies for melanoma patients with ERBB4 mutations.
A study identifies three genetic variants accounting for the wide range of dog coat textures, from poodles to beagles. The findings have implications for understanding complex human diseases, such as cancer and heart disease.
A single genetic event explains the short legs of all short-legged dog breeds, including dachshunds and corgis. The discovery provides new insights into human developmental disorders and may lead to a better understanding of hypochondroplasia, a growth disorder affecting some people.
A study found five genetic variants associated with high systolic blood pressure in African-Americans, suggesting potential new treatments. The variants were located near genes that code for proteins involved in hypertension regulation, offering hope for improved prevention and treatment options.
The Human Microbiome Project is expanding its efforts to understand the relationship between the microbiome and human health. The NIH has awarded over $42 million to fund sequencing centers and disease projects, including studies on psoriasis, bacterial vaginosis, obesity, and Crohn's disease.