Search Results
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… are followed over time to understand the symptoms and clinical course of GNE myopathy. This information is essential to prepare clinical treatment trials. … are followed over time to understand the symptoms and clinical course of GNE Myopathy and related disorders. This …
Event
The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory medicine and clinical trials in Mendelian disorders.
… The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on … clinical research with the underlying theme that genetics is both a diagnostic and therapeutic specialty.  … Excellence in Clinical Research Seminar Series …
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.
… (NHGRI) has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the NHGRI Division of Intramural … His efforts will integrate laboratory-based and clinical methods to study several pediatric diseases, …
Secondary Genomics Finding Service
Clinical Research Staff and Protocol Coordinators
… file the result in the NIH medical record, and complete a genetics consult. … to participants Currently, the American College of Medical Genetics recommends that variants in 59 genes be returned to people undergoing clinical sequencing - this is frequently referred to as the …
Clinical Research
A study where both genotypic (individual genetics) and phenotypic (individual disease characteristics) patient data would be analyzed using advanced data-analytics programs to derive meaningful associations for the development of prevention, management and treatment strategies.
… was launched by a team of NHGRI investigators at the NIH Clinical Center in early 2019. For more information, see … study is to conduct dedicated, systematic, and long-term clinical research of patients with germline RUNX1 mutations … and underlying mechanisms, which will lead to better clinical management and hopefully develop new therapies. …
News Release
Clinical geneticist to lead NHGRI’s clinical genomics research efforts
… Clinical geneticist to lead NHGRI’s clinical genomics research efforts … Solomon, M.D., to lead the institute’s intramural Clinical Research Program , which provides oversight and … Fellowship Executive Committee, which oversees the medical genetics training program. “Ben brings valuable experiences …
Research Training
Three-year residency program in medical genetics that trains physicians to diagnose, manage and counsel patients with genetic disorders.
… (NHGRI) offers a three-year residency program in medical genetics that trains physicians to diagnose, manage and … The Medical Genetics Residency Program exposes students to rare genetic … in a more typical medical genetics program; emphasizes clinical research, one of the few programs to do so; and …
Graduate Medical Education
An opportunity for a 4-to-8-week elective in the National Human Genome Research Institute (NHGRI) at the NIH Clinical Center in Bethesda, MD.
… Alcohol Use Disorders Biomedical Informatics Cardiology Clinical Pharmacology and Therapeutics for Senior Medical … Interventional Radiology/Interventional Oncology Medical Genetics Medical Oncology Neuro-Oncology Neurology/Clinical Neuroscience … Hospitalist Medicine Pediatric Oncology Psychiatry/Clinical Neuroscience Psychiatry/Consultation-Liaison …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… the Molecular Neurogenetics Section, is a pediatrician and clinical geneticist in the Medical Genetics Branch of the National Human Genome Research … University, and completed fellowship training in clinical genetics at the NIH Genetics Training Program. Dr. … group uses a translational approach, integrating both clinical and basic sciences. Gaucher disease (GD), the …
Educational Resources
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.