Search Results
Event
NHGRI, National Institute of Environmental Health Sciences (NIEHS) and National Cancer Institute (NCI) will host a pre-application interactive webinar for the Multi-Omics for Health and Disease program funding opportunity announcements (FOAs): RFA-HG-22-008,
RFA-HG-22-009 and RFA-HG-22-010.
Research at NHGRI
The NHGRI Division of Intramural Research aims to advance the frontiers of genetics and genomics.
… for improving the treatment, prognosis, and prevention of rare and common diseases. The study of genomic variation and its effects on … the clinical care arena. We study an array of disorders - rare as well as common, simple as well as complex - selected …
Clinical Research
An Observational Prospective Natural History Study of Metabolism, Infection and Immunity During the COVID19 Pandemic (At-home Participation).
Media Availability
TCGA researchers have found that chromophobe renal cell carcinoma stems partly from gene alterations in the mitochondria, the cell's energy supplier.
… of new findings about the biology and development of a rare form of kidney cancer. … They found that the disease - … of 50 of the 66 ChRCC tumors studied, a high number for a rare cancer. The study revealed increased numbers of … matter, as many cancers consist of several individual diseases that require specific therapies. TCGA is a …
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… His primary areas of interest include the development and diseases of melanocytes, the cells responsible for … research interest are the genetics of pigmentation and its diseases and the lysosomal storage disease Niemann-Pick … via high-throughput screens, its Therapeutics for Rare and Neglected Diseases program to bridge the gaps …
News Release
Over the last 20 years, three families have been unknowingly linked to one another by an unknown illness. Researchers at the National Human Genome Research Institute (NHGRI) and other organizations have now identified the cause of the illness, a new disease called CRIA syndrome. The results of their work were published on Dec. 11 in the journal Nature.
… M.D., Ph.D., a pioneer in the field of autoinflammatory diseases, and his team discovered CRIA, which has symptoms … unexplained fever, swollen glands and other symptoms or diseases, and then at over a quarter million people from … are routinely used to treat autoinflammatory and chronic diseases such as rheumatoid arthritis, had little effect on …
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… to apply these standards in the context of particular diseases. ClinGen projects center on developing processes and …
News Release
NIH awarded grants to six medical centers to select from the most difficult-to-solve medical cases and develop effective approaches to diagnose them.
… contribute local medical expertise to the NIH Undiagnosed Diseases Network (UDN). The network includes and is modeled … many diagnoses, often using genomic approaches, for rare conditions. "Newly developed methods for genome … powerful approaches for deciphering the causes of rare undiagnosed conditions," said Eric D. Green, M.D., …
News Release
NIH is establishing the Multi-Omics for Health and Disease Consortium, with approximately $11 million awarded in the consortium’s first year of funding. The new consortium aims to advance the generation and analysis of “multi-omic” data for human health research.
… drug targets. “Beyond gaining insights into individual diseases, the primary goal of this consortium is to develop … sites, which will examine conditions such as fatty liver diseases, hepatocellular carcinoma, asthma, chronic kidney … risk and outcomes. Beyond gaining insights into individual diseases, the primary goal of this consortium is to develop …
News Release
Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis.
… the last tea party, she received gene therapy for her rare disorder, GM1 gangliosidosis. … Only about one in … and to talk.” Scientists have described more than 7,000 rare disorders, the vast majority of which are thought to be caused by alterations in the patient’s DNA. Each rare disorder affects a small population, but when considered …