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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
Staff
Dr. Robb Rowley is an Internal Medicine Physician and a program director for the National Human Genome Research Institute (NHGRI) Electronic Medical Records and Genomics (eMERGE) Network.
… M.D. … Dr. Robb Rowley is an Internal Medicine Physician and is the Program Director for the National Human Genome Research Institute (NHGRI) Electronic Medical Records and Genomics (eMERGE) Network. The national Network combines DNA …
Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… cum laude  in philosophy from Princeton University in 1973 and a Ph.D. and M.D. from Baylor College of Medicine by 1982. … 2011 to 2021, and continues to maintain a busy lab in the Medical Genetics Branch. Throughout his career at the NIH … in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch. … Dan Kastner, inflammatory disorders, …
Staff
Dr. James Inglese is an adjunct investigator in NHGRI's Metabolic Medicine Branch.
… James Inglese directs the Assay Development and Screening Technology laboratory within the Division of … of NCATS, in 2004 Inglese co-founded the NIH Chemical Genomics Center (now at NCATS ), later acting as its deputy … Laureate Robert J. Lefkowitz, M.D., at Duke University Medical Center, investigating regulatory kinases of G …
Educational Resources
Genetic counseling is the professional interaction between a healthcare provider with specialized knowledge of genetics and an individual or family.
… a healthcare provider with specialized knowledge of genetics and an individual or family. … Genetic Counseling, … family, helps them make an informed decision about their medical situation and provides psychological counseling to …
Staff
Dr. Heidi Parker is an Associate Investigator in the Comparative Genetics Section of the Cancer Genetics and Comparative Genomics Branch, NHGRI.
… in the Comparative Genetics Section of the Cancer Genetics and Comparative Genomics Branch at the National Human Genome Research … traits shared across breeds. Because dogs receive regular medical care and live well into their elder years, they also …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… Research Institute (NHGRI). … This list of genetic, orphan and rare diseases is provided for informational purposes only and is by no means comprehensive. … A genetic disorder is a … inheritance disorder), by a combination of gene mutations and environmental factors, or by damage to chromosomes …
Staff
Dr. Lawrence Brody is a senior investigator in NHGRI's Social and Behavioral Research Branch and director of NHGRI's Division of Genomics and Society.
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… that lead to perturbations in normal metabolic pathways and cause disorders such as cancer and birth defects. His … as those in known breast cancer-linked genes, are of great medical importance. The second category of variants is … science over supposition in the arena of personalized genomics. Nat Genet , 40(8):939-42. 2008. [ PubMed ] … …
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… in the Organic Acid Research (OAR) Section of the Metabolic Medicine Branch in NHGRI. He earned a bachelor of … biotechnology degree from the University of Pennsylvania, and doctor of philosophy in molecular medicine from George … of Pennsylvania School of Medicine’s Department of Genetics in Dr. Haig Kazazian’s lab, where Dr. Chandler’s …
Educational Resources
Genetic discrimination is prejudice directed against people who have or may have a genetic disease.
Staff
Dr. Galarreta is a board-certified pediatrician and biochemical geneticist in NHGRI's Metabolic Medicine Branch.
… M.D. … Dr. Galarreta is a board-certified pediatrician and biochemical geneticist. She completed her pediatric … the University of California in San Diego to complete her medical genetics and genomics fellowship training. She subsequently moved to …