Search Results
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… The Clinical and Basic Investigations of Methylmalonic Acidemia study will evaluate patients with MMA and related disorders to learn more about the genetic causes … types of these inherited metabolic disorders and the medical complications associated with them. …
Event
NHGRI is conducting three Zoom-based listening sessions to help gather information from the national medical genetics community regarding the current and future state of the medical geneticist workforce.
… to help gather information from the national genetics and genomics community regarding the current and future state of the clinical geneticist workforce. We … understand the community’s views regarding key challenges and potential solutions in clinical genetics and genomics, as …
About NHGRI
Established in 1989, NHGRI collaborates with the scientific and medical communities to catalyze genomic breakthroughs.
… Established in 1989, NHGRI collaborates with the scientific and medical communities to catalyze genomic breakthroughs and supports the robust study and treatment of specific … A highly diverse community of expertise and skill sets is needed to run a scientific organization …
Educational Resources
A family history is a record of medical information about an individual and their biological family.
… A family history is a record of medical information about an individual and their biological family. … as related to medicine, is a record of the diseases and health conditions of an individual and that person’s biological family members, both living and … is a record of medical information about an individual and their biological family. …
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 … Washington, D.C.; fellowship training in clinical genetics and clinical biochemical genetics from the NIH. Dr. Introne … Dr. Introne’s research focuses on several rare inherited and metabolic disorders, including alkaptonuria, …
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 …
Graduate Medical Education
An opportunity for a 4-to-8-week elective in the National Human Genome Research Institute (NHGRI) at the NIH Clinical Center in Bethesda, MD.
… Biomedical Informatics Cardiology Clinical Pharmacology and Therapeutics for Senior Medical Students Critical Care Medicine Endocrinology and Metabolism Health Services Hematology Hepatology … Neurosurgery Otolaryngology—Head and Neck Surgery Pain and Palliative Care Pathology Pediatric …
Talking Glossary
Genomic medicine is a medical discipline that involves using a person’s genomic information as part of their clinical care.
… Genomic medicine is a medical discipline that involves using a person’s genomic … Genomic medicine is a medical discipline that involves using a person’s genomic … include individualized medicine, personalized medicine and precision medicine. For some conditions, genomic …
Research Funding
The Division of Genomic Medicine promotes the NHGRI's efforts to advance the application of genomics to medical science and clinical care.
… efforts to advance the application of genomics to medical science and clinical care. … Many DGM programs and projects have working groups with similar research topics and missions. … The division plans, directs and facilitates multi-disciplinary research to identify …
Scientific Community
NHGRI's world-class genomics researchers are accelerating scientific and medical breakthroughs that improve human health.
… authority for genomics research related to human health and disease. By conducting world-class genomics research, NHGRI accelerates scientific and medical breakthroughs that improve human health. … Genome Project by translating genomic knowledge into tools and approaches for improving the treatment, prognosis, and …