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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
15 Ways Genomics Influences Our World
Genomics is helping us choose the right medication at the right dose for each patient.
… Genomics is helping us choose the right medication at the … be possible without sequencing the genomes of many people and comparing their responses to medicines. One of the most … and researchers are constantly seeking both to optimize medical treatments and to avoid adverse (or negative) …
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 …