Search Results
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. … those to inform the public of the latest advances in genomics, as well as to support the dissemination of …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… as phenylalanine. Phenylalanine comes from a person's diet and is used by the body to make proteins. Phenylalanine is found in all food proteins and in some artificial sweeteners. Without dietary treatment, … to harmful levels in the body, causing mental disability and other serious problems. Women who have high levels of …
News Release
NHGRI has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the Division of Intramural Research. Dr. Hanchard will head the Childhood Complex Disease Genomics Section within the MGMGB.
… Dr. Hanchard will lead the new Childhood Complex Disease Genomics Section. … M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the NHGRI … M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the …
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 … working towards creating a model system for diagnosing medical mysteries. The network's goals? Accelerate the … diseases; improve clinical management of these disorders; and advance research. … brought insights how to best diagnose hard to define medical cases. This type of work requires doctors to gather …
Research Funding
The Grants Administrations Branch is responsible for all business management aspects of NHGRI's grant and cooperative agreement programs.
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… The Grants Administrations Branch is responsible for all business management aspects of … the National Human Genome Research Institute (NHGRI) grant and cooperative agreement programs. The branch conducts the negotiation, award and administration of funded projects. Oversight …
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. … conditions are passed down from one generation to another. Genomics describes the study of all of a person's genes (the … phenylketonuria (PKU) ( Learning About Phenylketonuria ). Genomics is a more recent term that describes the study of …
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 … Gahl's research has focused on the natural history of rare metabolic disorders and the discovery of new genetic …
Talking Glossary
Genetics is the branch of biology concerned with the study of inheritance, including the interplay of genes, DNA variation and their interactions with environmental factors.
… Genetics … Genetics is the branch of biology concerned with the study of inheritance, … including the interplay of genes, DNA variation and their interactions with environmental factors. … including the interplay of genes, DNA variation and their interactions with environmental factors. …
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 – How Far Have We Come and How Far Can We Go? March 16, 2024, 10:15–12:15 p.m. … in the All of Us Research Program Clinical Genetics and Therapeutics Session A March 14, 2024, 4:15 – 5:45 p.m …
Staff
Dr. Introne is a pediatrician, clinical and biochemical geneticist in the Medical Genetics Branch in NHGRI.
… Dr. Introne is a pediatrician, clinical and biochemical geneticist in the Medical Genetics Branch in NHGRI. She completed her M.D. from the … Dr. Introne’s research focuses on several rare inherited and metabolic disorders, including alkaptonuria, Chediak-Higashi …