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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Multi-Omics for Health and Disease (Multi-Omics)1
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… suggests sequencing all 24 chromosomes to uncover other, rare disorders in pregnancy. Image Credit: Getty Images. … samples were deemed abnormal, 60 of which contained a rare trisomy. Trisomy 7 was observed most frequently in both … to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at: …
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.
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
… Dr. Huizing investigates rare human genetic disorders and associated intracellular … Dr. Huizing also studies other sialic acid-related diseases, including sialuria, a progressive disease in which … (HPS), Chediak-Higashi syndrome, and Griscelli syndrome. A rare inherited disorder that has been identified in about 400 …
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).
News Release
Genomic variants that increase risk of kidney disease are found in nearly one-third of West Africans
A study from researchers at National Institutes of Health (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people of West African ancestry.
… also drastically increase the likelihood of developing a rare kidney condition called focal segmental … National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) and co-author of the study. “Overall, we …
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 …
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 …
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
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 …