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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.
… 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 … 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 … 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 …
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 … NHGRI study highlights role of mitochondria in immune response …
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 … Caregiving Roles of Siblings of Children with Inborn Errors of Metabolism . J Dev Behav Pediatr . 2023 Feb …
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. … 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). … academia and hyperhomocysteinemia. Session #72: Inborn Errors of Metabolism: Novel Disorders, Models, and … institute's diverse portfolio at the 65th annual meeting of ASHG. …
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 … and cytogenetics. Trainees spend approximately 50% of their time in a pediatrics residency program at CNH and … DC region. Clinical training highlights the role of genetics in general medicine, pediatrics, oncology, …
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… clinical practice. One factor that limits the clinical use of variant information is the lack of openly accessible … hereditary (germline) cancer, somatic cancer and inborn errors of metabolism have been brought together to assist in … working groups with expertise in cardiovascular disease, inborn errors of metabolism, somatic cancer, neuromuscular …
The Genomics Landscape
NHGRI medical genetics training programs provide an array of education opportunities
… M.D., Ph.D, announced expansive new efforts for all of NIH to support equity, diversity, and inclusion in … racism in biomedical research, through the launch of an initiative called UNITE . I encourage you to respond to … pandemic, I would — as I have in previous issues of The Genomics Landscape — like to offer some “remote …