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. 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 … antibody repertoire . Mol Genet Metab . 2023 Jun;139(2):107581. Warren E, Gordon-Lipkin EM , Cheung F, Chen J, … cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A …
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 …
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 … Copula Model: Bioinformatics and Biology Insights 2008;2 349-361 Ao Yuan, Guanjie Chen, Charles Rotimi. Genetic … BA, Conley YP, Chen G, Miller RG et al. Variants of the adenosine A(2A) receptor gene are protective against …
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 …
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 …
Staff
Dr. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.
… focuses on translational research determining the effect of genetic variation on gene function and identifying primary … the impact and functional basis of risk variants for type 2 diabetes (T2D). That information can both provide … Broad Institute has developed the CRISPR-mediated Adenine-deaminase DNA Base Editor (ABE) packaged in adeno-associated …
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 … DCGR's research capacity to facilitate genomic research; 2) increasing productivity of investigators; and 3) ensuring … The study proposes to test the hypothesis that complete deficiency of the PLA2R1 gene is a genetic risk factor for …