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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 …
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: …
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 …
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 …
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 …
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 …