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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Enhancing Opportunities in Computational Genomics and Data Science1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
Research at NHGRI
The Genetics and Molecular Biology Branch uses genomic technologies to study the human genome and other organisms and disease mechanisms.
… Branch uses genomic technologies to study the human genome and other organisms and disease mechanisms. … Research …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… . No therapies are currently approved for GNE Myopathy. Studies on mouse models of GNE Myopathy have provided … to be the cause of the muscle decline in GNE Myopathy.  Studies have shown that supplementation of ManNAc to cell … GNE function and enables the production of sialic acid. Studies in mouse models of GNE Myopathy have shown a …
News Release
A the largest genomics study of clear cell endometrial cancer (CCEC) tumors has identified mutations in the TAF1 gene.
… endometrial cancer (CCEC) tumors to date, National Human Genome Research Institute (NHGRI) researchers and their … regulates the expression of other genes throughout the genome. In addition, the researchers looked at patterns of …
News Release
A new study offers insights into why some people's hair goes gray in response to a serious illness or chronic stress.
… Genetic Disease Research Branch at NIH's National Human Genome Research Institute (NHGRI). "These results may enhance … genes and the innate immune system response. In future studies, the team plans to investigate in more detail the …
Clinical Research
The Protocol Service Center provides assistance in the development and administration of study protocols requiring NIH Institutional Review Board approval.
… The National Human Genome Research Institute (NHGRI) Protocol Service Center …
Research Funding
The centers study in innovative ways to address important ethical, legal, and social issues related to advances in genomics.
… Program has funded research grants from investigators in a wide range of disciplines. Many of these projects have used … research). Add value beyond the genomics and ELSI research studies that are already ongoing at the applicant … issues raised by such research; 2) to conduct scholarly studies that inform the ethical practice of research; and 3) …
News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… diseases. The new grants, pending available funds, support studies to better understand the causes and development of … Wise, Ph.D., a program director at the National Human Genome Research Institute (NHGRI), a part of NIH. "The … Translational Sciences. Gene Function Research Grants As genome sequencing reveals new gene variants in UDN patients, …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… The Genetic Disease Research Branch studies the mechanisms by which genetic changes affect the … to human disease. … The Genetic Disease Research Branch studies how genetic changes affect the structure and function …
Research at NHGRI
CRGGH develops a comprehensive staff and training program that uses genomic approaches to study human health and to reduce/eliminate health disparities.
… (CRGGH) and the Scientific Director of the National Human Genome Research Institute , National Institutes of Health … before immigrating to the United States for further studies. Dr. Rotimi started his education in the United … the NIH, Dr. Rotimi was the Director of the National Human Genome Center at Howard University. In his continued efforts …
News Release
A new study by scientists at NHGRI, suggests that iPSCs do not develop more mutations than cells that are duplicated by subcloning.
… mutations. A new study by scientists at the National Human Genome Research Institute (NHGRI), part of the National …