Search Results
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 … Rice see it as a potential tool for fighting vitamin A deficiency and saving lives. In 2015, they were given the " …
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 … Examples under investigation include α1 antitrypsin deficiency caused by protein aggregation-inducing mutations …
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 … …
Policy Issues
Participar en una investigación genómica es una oportunidad para apoyar la exploración cientÃfica del genoma.
… los Institutos Nacionales de la Salud (National Institutes of Health, NIH) en su misión de entender, prevenir, detectar …
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
… 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: …
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. … Examples of rare diseases caused by mutations …
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. … The Physician-Scientist Development … 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 … of fetal hemoglobin will compensate for the patient's deficiency of adult hemoglobin. … Blood tests and family …
News Release
NIH researchers have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation.
… genomic condition measures disease severity and success of liver transplantation for patients. … Researchers at the National Institutes of Health have developed a breath test that measures how well … for the MMUT protein. People with this form of MMA have a deficiency in the MMUT protein, which plays a pivotal part in …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… working with patients and families to better understand of how genes can cause or influence diseases and develop new … and Genetic Studies on Holoprosencephaly Immunologic Deficiency Syndrome Genetic Analysis of Immune Disorders Immunologic Deficiency Syndrome Molecular and Clinical Studies of Primary …