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Policy Issues
Synthetic biology is a field of science that involves redesigning organisms for useful purposes by engineering them to have new abilities.
… Synthetic biology is a field of science that involves redesigning organisms for useful … and companies around the world are harnessing the power of nature to solve problems in medicine, manufacturing and … usually associated with carrots, that prevents vitamin A deficiency . Vitamin A deficiency causes blindness in 250,000 …
Staff
Dr. James Inglese is an adjunct investigator in NHGRI's Metabolic Medicine Branch.
… and Screening Technology laboratory within the Division of Pre-Clinical Innovation at NCATS. His postdoctoral … effort in early-stage translation. Prior to the formation of NCATS, in 2004 Inglese co-founded the NIH Chemical … from Pennsylvania State University, under the guidance of chemist and enzymologist Stephen J. Benkovic, Ph.D., where …
Staff
Dr. Gordon-Lipkin is a researcher and child neurologist with expertise in neurodevelopmental disabilities in the Metabolism, Infection and Immunity (MINI) Section.
… She completed her medical training from the University of Maryland in Baltimore; residency in pediatrics from the … Disabilities from the Johns Hopkins School of Medicine and Kennedy Krieger Institute, respectively, … longstanding research interests focus on the effects of infection and inflammation on brain development and …
15 Ways Genomics Influences Our World
Genomics is empowering farmers to improve the food supply.
… breeding practices that have been in use for thousands of years? The ability to read genome sequences coupled with … genes or gene changes allows us to speed up the process of selecting desirable traits in plants and animals. Let's say that you were a farmer thousands of years ago. If you found a couple of plants that were more …
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.
… 14, 2024, 4:15 – 5:45 p.m MTCC-718 Phenome-wide Studies of Hereditary Transthyretin Amyloidosis in the All of Us Research Program Clinical Genetics and Therapeutics … Interpretation Recommendations for Cerebral Creatine Deficiency Syndromes Biochemical/Metabolic and Therapeutics …
Event
On November 5-9, 2024, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
…  Presenter Title Board # Wednesday, November 6, 2:30 – 4:30 p.m. Anas Awan Phenome-wide association study of MTHFR variant in UK Biobank and All of Us 1086W Amy Bentley G6PD deficiency masks the diagnosis of abnormal glucose tolerance: … into Liver Disease Platform Talk: Genetic Determinants of Liver Function Markers in African Ancestry Populations …
Staff
Dr. Guanjie Chen is a senior research fellow with the NHGRI's Center for Research on Genomics and Global Health.
… in 1985, and an M.S. in Statistics from the University of Memphis, Tenn., in 1999. During his Master's study, he was a research assistant in the Bureau of Business & Economics research at the University of Memphis. He then joined the Department of Preventive …
For Patients and Families
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.
… diseases are referred to as rare, genetic diseases. Many of these genetic mutations can be passed on from one … important to keep in mind that genetics are just one piece of the puzzle. Environmental factors, such as diet, smoking, … with genetic factors to cause or increase the severity of disease. …
News Release
The Physician-Scientist Development Program helps physicians develop research programs dedicated to the disorders they specialize in.
… disease with no known cure. Today, Dr. McGuire is one of the world's leading experts in the disease, and, armed … to NHGRI as the newest faculty member to join its Division of Intramural Research. … of metabolism" (IEM). Patients with IEM have an inherited deficiency of a required protein (or proteins) needed to keep …
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce … Thalassemia is actually a group of inherited diseases of the blood that affect a person's … of fetal hemoglobin will compensate for the patient's deficiency of adult hemoglobin. …