Search Results
Talking Glossary
A secondary genomic finding refers to a genomic variant, found through the analysis of a person’s genome, that is of potential medical value yet is unrelated to the initial reason for examining the person’s genome.
… the analysis of a person’s genome, that is of potential medical value yet is unrelated to the initial reason for … the analysis of a person’s genome, that is of potential medical value yet is unrelated to the initial reason for … that could change the medical management of that patient and potentially prevent or more effectively treat the …
News Release
Researchers have discovered that FGF21 is elevated in mice with liver disease that mimics the same condition in patients with methylmalonic acidemia.
… (MMA), a serious genomic disorder. Based on this finding, medical teams treating patients with MMA will be able to … to predict how severely patients' livers are affected and when to refer patients for liver transplants. … … more common disorders such as fatty liver disease, obesity and diabetes by uncovering similarities in how MMA and these …
Research at NHGRI
The Center for Precision Health Research, formerly Medical Genomics and Metabolic Genetics Branch, studies how health and disease are related to genetic, genomic and metabolic variation.
… in the Center for Precision Health Research (CPHR) develop and evaluate cutting edge genomic and informatic tools to improve the diagnosis, treatment and … Center for Precision Health Research (CPHR) (formerly the Medical Genomics and Metabolic Genetics Branch) was …
Staff
Dr. Merideth is a staff clinician in the Office of the Clinical Director and program director for both the NHGRI Medical Biochemical Genetics Fellowship and
NHGRI Clinical Biochemical Genetics Fellowship.
… Melissa Merideth, M.D., M.P.H. … Dr. Merideth went to medical school at Johns Hopkins University School of Medicine and completed Obstetrics/Gynecology residency at the Mayo … completed a residency in Clinical Genetics at NHGRI and subspecialty fellowship training in Clinical Biochemical …
Professional Development Programs
JHU/NIH GCTP Executive Committee is composed of genetic counselors, social scientists and medical geneticists. Their varied backgrounds are an asset to the Program and to students as they develop their thesis.
… Leslie Biesecker, M.D. Director and NIH Distinguished Investigator Center for Precision … Neelon, Ph.D. Director for the Lerner Center The Helaine and Sydney Lerner Professor, Health, Behavior and Society … is composed of genetic counselors, social scientists and medical geneticists. Their varied backgrounds are an asset to …
Staff
Dr. Nephi Walton is a clinical geneticist and medical informaticist. He served as a program director for the National Human Genome Research Institute (NHGRI) AnVIL Clinical Resource from 2024-2025.
… M.S., FACMG … Dr. Nephi Walton is a clinical geneticist and medical informaticist. He served as a program director for … genetics, biomedical informatics, machine learning, and precision medicine, Dr. Walton has made significant …
Research Funding
The $1,000 Genome Program was a coordinated effort to support the development of technologies to dramatically reduce the cost of DNA sequencing, a move aimed at broadening the applications of genomic information in medical research and health care.
… applications of genomic information in biomedical research and health care. Some of the successes of this program, which … in Nature : “Technology: The $1,000 Genome.” The history and achievements of the $1,000 Genome Program, which was led … DNA Sequencing Technologies Fit for Routine Laboratory and Medical Use August 2008 New Grants Bolster Efforts to …
Staff
Dr. Rongling Li is an epidemiologist and program director in the Division of Genomic Medicine at the National Human Genome Research Institute.
… Dr. Li is a genetic epidemiologist and the program director for the International Hundred … IHCC, she was the lead program director for the electronic Medical Records and Genomics (eMERGE) Network from January 2009 to January …
Research Training
The Graduate Partnerships Program develops future scientists by providing opportunities to perform research in NHGRI laboratories.
… those who have already completed a residency in obstetrics and gynecology. … Graduate or medical students at accredited U.S. universities or … Program, Training Programs, Graduate Students, Medical Students, Research Investigators, NHGRI Laboratories …
News Release
NHGRI has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the Division of Intramural Research. Dr. Hanchard will head the Childhood Complex Disease Genomics Section within the MGMGB.
… M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the NHGRI Division … Kastner, M.D., Ph.D., NHGRI's scientific director. “Neil and his team will bring new energy and academic vigor to …