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News Release
ASHG members selected Leslie G. Biesecker, M.D., a clinical and molecular geneticist and investigator with NHGRI, as their new president-elect for 2019.
… Jeannine Mjoseth … American Society of Human Genetics (ASHG) members have selected Leslie G. … In 2019, Dr. Biesecker will become president of ASHG, a professional membership organization for human … personal capacity. … As the senior investigator and chief of NHGRI's Medical Genomics and Metabolic Genetics Branch, …
Research Training
Three-year residency program in medical genetics that trains physicians to diagnose, manage and counsel patients with genetic disorders.
… genetics program; emphasizes clinical research, one of the few programs to do so; and grants access to the vast resources at the National Institutes of Health (NIH) and at other highly ranked medical … medical license from any state. … The first two years of the residency fulfills requirements of the Accreditation …
Research Training
This program offers training in a combined program of maternal-fetal medicine and medical genetics.
… offers new subspecialty training in a combined program of maternal-fetal medicine and med genetics in collaboration … seen in prenatally diagnosed anomalies and the impact of genetic and metabolic disease on healthy and high risk … The fellowship is structured to allow two years of focus on maternal-fetal medicine and two years of focus on …
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 Clinical Studies of Primary Immunodeficiency Diseases Inborn Errors of Metabolism Clinical and Laboratory Study of …
News Release
A new study highlights how genomic mutations that cause mitochondrial disease may also compromise affected people's immune response.
… disease, the researchers created a mouse model of mitochondrial disease in T-cells. T-cells play important … The NIH MINI Study: Metabolism, Infection and Immunity in Inborn Errors of Metabolism … Mutations Reduce Protective Immunity … …
Research at NHGRI
The goal of our Caregiving Study is to understand how caregivers manage the demands of caring for a loved one with a long-term health condition and how social relationships affect caregivers' ability to cope.
… Taking care of a loved one with a long-term health condition can be … The Caregiving Study focuses on the following diagnoses: Inborn errors of metabolism Mitochondrial disorders CLN3 Batten …
Staff
Dr. Rossignol is a staff clinician in the Undiagnosed Diseases Program under Dr. William Gahl.
… Gahl. Since 2021, Dr. Rossignol has been teaching the Inborn Errors of Metabolism course offered by the Foundation for Advanced …
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 … diseases (including glutaric aciduria type I) known as "inborn errors of metabolism" (IEM). Patients with IEM have an …
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… institute's diverse portfolio at the 65th annual meeting of the American Society of Human Genetics (ASHG). … Dozens of … academia and hyperhomocysteinemia. Session #72: Inborn Errors of Metabolism: Novel Disorders, Models, and …
Research Training
An opportunity for medical school graduates to complete a combined, five-year residency program in pediatrics and medical genetics.
… as well as in the diagnosis, management, and counseling of patients with genetic disorders. Combined residents gain … Genetics; Developmental Biology and Human Malformations; Inborn Errors of Metabolism; and Current Concepts in Clinical …