Search Results
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 … …
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 …
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 …
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 …
Diversity Center
Meharry Medical College establishes a Diversity Center for Genome Research (DCGR) that will narrow inequitable representation gaps for underrepresented, disadvantaged minority by realizing their vision to promote African ancestry genomic research through infrastructure building and the formation of basic, clinical, and computational science research teams that are inclusive, interdisciplinary, and community-engaged.
… research through infrastructure building and the formation of basic, clinical, and computational science research teams … supporting academic excellence in genomics research of populations with African ancestry. Promote research … The study proposes to test the hypothesis that complete deficiency of the PLA2R1 gene is a genetic risk factor for …
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 …
Staff
Dr. Julie Segre is chief and a senior investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.
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… from Amherst College, where she now serves on the board of trustees. She received her Ph.D. from the Massachusetts Institute of Technology in the laboratory of Eric Lander, Ph.D., and the newly formed genome center. …