Search Results
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.
… This list of genetic, orphan and rare diseases is provided for informational purposes only and is by no means comprehensive. … inheritance disorder), by a combination of gene mutations and environmental factors, or by damage to chromosomes … caused by mutations that are inherited from the parents and are present in an individual at birth, like sickle cell …
Educational Resources
Genetic discrimination is prejudice directed against people who have or may have a genetic disease.
Staff
Dr. Heidi Parker is an Associate Investigator in the Comparative Genetics Section of the Cancer Genetics and Comparative Genomics Branch, NHGRI.
… Parker is an associate Investigator 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 …
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.
… 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 … Human Genome Research Institute (NHGRI) Electronic Medical Records and Genomics (eMERGE) Network. …
Staff
Dr. Galarreta is a board-certified pediatrician and biochemical geneticist in NHGRI's Metabolic Medicine Branch.
… 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 … have encompassed several areas, including phenotyping and natural history of rare diseases, epidemiology of birth …
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 …
The Genomics Landscape
In the September 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details the American Society of Human Genetics' (ASHG) new strategic plan, which aims to get people everywhere to realize the benefits of genomics and genetics research.
… research community recently lost a key contributor to the genomics revolution. Kary Mullis, inventor of the polymerase chain reaction (PCR) and Nobel Prize winner, passed away last month. The … opportunities for integrating genomics into routine medical practice in a fashion that prevents disease and …
Jobs at NHGRI
NHGRI is seeking candidates for the Chief of our Scientific Review Branch (SRB) in the Division of Extramural Operations (DEO).
… seeking candidates for the Chief of our Scientific Review Branch (SRB) in the Division of Extramural Operations (DEO). The SRO will be responsible for conducting and managing initial peer review for research, career development and training applications assigned to NHGRI. Application …
News Release
NHGRI appoints Elizabeth Tuck as the director of its NHGRI’s Education and Community Involvement Branch to oversee programs aiming to increase genomics literacy and education.
… Tuck to oversee programs aiming to increase genomics literacy and education. … Tuck, M.A., has been appointed director of the Education and Community Involvement Branch at the National Human Genome … Involvement Branch (ECIB), within the NHGRI Division of Genomics and Society, develops programs aimed at …
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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… genetic mutations 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 ] …