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News Release
Research points to the effects of nutrients in how DNA mutates in the mitochondria.
… Research points to the effects of nutrients in how DNA mutates in the mitochondria. … affect one of these essential molecules, DNA. “You need to create more DNA if you're going to make new cells, and you … make it harder to absorb vitamin B12, mimicking a vitamin deficiency. All the mice, however, were on strictly …
Staff
Eric D. Green, M.D., Ph.D., served as the director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH) from 2009 to 2025.
… Eric D. Green, M.D., Ph.D., served as the director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH) from 2009 to 2025. He was the third NHGRI director, having been … the NIH Intramural Sequencing Center (1997 - 2009). Prior to that, he played an integral role in the Human Genome …
Staff
Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of NHGRI's Medical Genetics Branch.
… a clinical researcher in the Inflammatory Disease Section of the Medical Genetics Branch at the National Human Genome … Center and Saint Louis University. In 2010, she moved to Bethesda, Maryland in pursuit of research experience. Having aligned herself with Dr. Dan …
Staff
Dr. Rossignol is a staff clinician in the Undiagnosed Diseases Program under Dr. William Gahl.
… 2021, Dr. Rossignol has been teaching the Inborn Errors of Metabolism course offered by the Foundation for Advanced … co-principal investigator for a multicenter clinical trial of ManNAc (a precursor of sialic acid) in GNE myopathy; and … of unknown etiology and collaborates with scientists to identify new conditions or expand the phenotypic …
Staff
Dr. Stone is a staff clinician in NHGRI's Inflammatory Disease Section.
… Dr. Stone attended medical school at the University of Florida College of Medicine. She completed her pediatrics residency at the Children’s Hospital of Pittsburgh and fellowship in Clinical Genetics from the … pyoderma gangrenosum, and acne), a condition difficult to treat in some severely affected individuals. She …
Say Cheese
Say Cheese
… NHGRI's Office of Communications invites you to schedule time with our … photos will require more time and will be taken outside due to COVID restrictions. To accommodate group photos, …
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… genital ulcers, as well as vision destroying inflammation of the eyes. Research suggests the disease develops due to pathogen exposure, along with a mix of genetic and … many of which are involved in immune response to invading pathogens. The study - Dense genotyping of …
Research Funding
The Genomics-enabled Learning Health System (gLHS) Network aims to identify and advance approaches for integrating genomic information into existing learning health systems.
… Administration Research Institute Boston, MA VA Office of Rural Health VA Office of Primary Care The VA Genomics Learning Health System: … Ph.D. Paul R. Dexter, M.D. Indiana University School of Medicine Indianapolis, IN Eskenazi Health Community Health … results to optimize medical care. LHS have gained traction due to advancements in electronic health records (EHRs) and …
Educational Resources
A birth defect is an abnormality present at birth.
… factors, prenatal events during pregnancy or a combination of both. Some birth defects are easy to see (such as an extra or missing finger), while others (such as an enzyme deficiency) are identified through special tests. …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… byproduct stored in the lysosomes (recycling centers) of macrophages (clean-up cells of the immune system). In … with GD, this enzyme does not function correctly, leading to a buildup of that byproduct. The macrophages malfunction … months of life. There is generally no effective treatment due to the severe brain involvement and inability of current …