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- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
Jobs at NHGRI
Postdoctoral positions are available in the laboratory of Dr. Daphne W. Bell, within the Cancer Genetics and Comparative Genomics Branch of the National Human Genome Research Institute, at NIH.
… in the laboratory of Dr. Daphne W. Bell, within the Cancer Genetics and Comparative Genomics Branch of the National Human Genome Research …
Jobs at NHGRI
Postdoctoral positions are available in the laboratory of Dr. Daphne W. Bell, within the Cancer Genetics and Comparative Genomics Branch of the National Human Genome Research Institute, at NIH.
… in the laboratory of Dr. Daphne W. Bell, within the Cancer Genetics and Comparative Genomics Branch of the National Human Genome Research …
Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… Genetics and genomics both play roles in health and disease. Genetics … their whole lives, eat a healthy diet, have regular medical checkups, and die of a heart attack at age 40. There … and other physical problems in children who have rare metabolic conditions, or to treat children with certain …
Administrative
The Information Technology Branch provides leadership and service for information technology resources at NHGRI.
… The Information Technology Branch (ITB) provides leadership and service for all … Research Institute (NHGRI). … Applications ITB develops and integrates applications for NHGRI customers. Operations …
News Release
UDN members have published a how-to guide for diagnosing medical mysteries for medical centers nationwide outline the framework for how this can be successful.
… Communications and Public Liaison Branch … Since accepting its first patient … working towards creating a model system for diagnosing medical mysteries. The network's goals? Accelerate the … the online version of the American Journal of Human Genetics. Related Resources The Undiagnosed Diseases Network: …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… Bianchi, M.D., NHGRI, Panelist 2024 ACMG Foundation Awards and Presidential Plenary Session: Inquiry and Innovation – … Neurodegenerative Disorders P204 Primary Care Electronic Medical Record Features Predicting Genetics Referrals P224 … research and the latest advances in medical genetics, genomics and personalized medicine.  The conference will …
Administrative
NHGRI branch responsible for education and community involvement programs to increase understanding of genomics and its ethical, legal, and social issues.
… The Education and Community Involvement Branch (ECIB) develops education and community involvement … to engage a broad range of the public in understanding genomics and accompanying ethical, legal, and social issues. …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… makes an enzyme called glucocerebrosidase that breaks down and recycles glucocerebroside - a normal part of the cell … and 3 do affect the nervous system. Type 2 causes serious medical problems beginning in infancy, while Type 3 … disease is currently being conducted at the Medical Genetics Branch of the National Human Genome Research …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… from the Massachusetts Institute of Technology in 1972 and his M.D. from the University of Wisconsin in 1976. He … genetics fellowships at the NIH's Interinstitute Medical Genetics Training Program, which he directed from … Biogenesis: Clinical and Molecular Genetics. Annu Rev Genomics Hum Genet, 9:359-86, 2008. [ PubMed ]. Gahl WA. …
Professional Development Programs
The National Institutes of Health (NIH) seeks qualified physicians, physician assistants, nurse practitioners and genetic counselors interested in acquiring credentials and experience to lead genomic medicine research and implementation programs at the NIH, major medical centers and other organizations.
… to learn about grants management, collaboration and leadership. An immersive experience in various settings, … portfolio and program management at the forefront of genomics. The keystone of this program is sage mentorship … position: Visiting Assistant Professor, Department of Medical and Molecular Genetics, Indiana University School of …