Search Results
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… types of these inherited metabolic disorders and the medical complications associated with them. … People with … causes of these inherited metabolic disorders and the medical complications associated with them. People with MMA … types of these inherited metabolic disorders and the medical complications associated with them by clinically …
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.
… sessions to help gather information from the national medical genetics community regarding the current and future state of the medical geneticist workforce. … NHGRI is conducting three … sessions to help gather information from the national medical genetics community regarding the current and future …
About NHGRI
Established in 1989, NHGRI collaborates with the scientific and medical communities to catalyze genomic breakthroughs.
… in 1989, NHGRI collaborates with the scientific and medical communities to catalyze genomic breakthroughs and … in 1989, NHGRI collaborates with the scientific and medical communities to catalyze genomic breakthroughs. … … in 1989, NHGRI collaborates with the scientific and medical communities to catalyze genomic breakthroughs. … …
Educational Resources
A family history is a record of medical information about an individual and their biological family.
… Family History … A family history is a record of medical information about an individual and their biological … among individuals. … A family history is a record of medical information about an individual and their biological …
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.
… Neurodegenerative Disorders P204 Primary Care Electronic Medical Record Features Predicting Genetics Referrals P224 … of the Association of Professors of Human and Medical Genetics Updated Core Competencies for Medical School P848 Novel Structural Variant in …
Staff
Dr. Introne is a pediatrician, clinical and biochemical geneticist in the Medical Genetics Branch in NHGRI.
… a pediatrician, clinical and biochemical geneticist in the Medical Genetics Branch in NHGRI. She completed her M.D. from … New Mexico; pediatric residency from Children’s National Medical Center in Washington, D.C.; fellowship training in … a pediatrician, clinical and biochemical geneticist in the Medical Genetics Branch in NHGRI. … Dr. Introne is a …
Talking Glossary
Genomic medicine is a medical discipline that involves using a person’s genomic information as part of their clinical care.
… Genomic Medicine … Genomic medicine is a medical discipline that involves using a person’s genomic … as part of their clinical care. … Genomic medicine is a medical discipline that involves using a person’s genomic … outcomes and guide treatment. … Genomic medicine is a medical discipline that involves using a person’s genomic …
Scientific Community
NHGRI's world-class genomics researchers are accelerating scientific and medical breakthroughs that improve human health.
… genomics research, NHGRI accelerates scientific and medical breakthroughs that improve human health. … Our … methods to expand genomics research, ultimately leading to medical breakthroughs. … Our clinical researchers are leading … genomics researchers are accelerating scientific and medical breakthroughs that improve human health. … NHGRI's …
Staff
Dr. Grisel Lopez is a Board-certified neurologist and researcher in the Medical Genetics Branch of NHGRI.
… is a Board-certified neurologist and researcher in the Medical Genetics Branch of NHGRI. She completed her medical degree and Neurology residency training (including Chief Residency) from Kansas University Medical Center (KUMC) in Kansas City, Kansas. She pursued a …
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 … Rockville, Md.  Genomic Medicine VII: Genomic Clinical Decision Support - Developing Solutions for Clinical … Date: December 4, 2020 2019 RFA-HG-19-015 : The Electronic Medical Records and Genomics (eMERGE) Genomic Risk Assessment …