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- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… History Study of Patients with GNE Myopathy collects genetic and medical information from people with GNE myopathy. … are followed over time to understand the symptoms and clinical course of GNE myopathy. This information is …
News Release
Clinical geneticist to lead NHGRI’s clinical genomics research efforts
… Sarah A. Bates, M.S. … Clinical geneticist to lead NHGRI’s clinical genomics … Clinical Research Program , which provides oversight and guidance to NHGRI scientists and physicians working to … improved medical management strategies for patients with genetic disorders. NHGRI is part of the National Institutes …
Research Training
Three-year residency program in medical genetics that trains physicians to diagnose, manage and counsel patients with genetic disorders.
… genetics that trains physicians to diagnose, manage and counsel patients with genetic disorders. … The Medical Genetics Residency Program … in a more typical medical genetics program; emphasizes clinical research, one of the few programs to do so; and …
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 … purpose of this study is to conduct dedicated, systematic, and long-term clinical research of patients with germline … therapies. People with germline RUNX1 mutations develop a genetic disease called familial platelet disorder with …
Secondary Genomics Finding Service
Clinical Research Staff and Protocol Coordinators
… … 2. Setting up a contact We will need a point person and also want to talk with someone in your group who is … confirmation of research findings. … 4. Confirmation and genetic counseling We will confirm the preliminary finding … that variants in 59 genes be returned to people undergoing clinical sequencing - this is frequently referred to as the …
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 Students Critical Care … genetics Learn about genomic sequencing and management of genetic disorders Participate in supervised clinical, …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… of the Molecular Neurogenetics Section, is a pediatrician and clinical geneticist in the Medical Genetics Branch of the … mechanisms, and to tackle the challenge of identifying genetic modifiers. Although GD is classically divided into …
Research Training
An opportunity for medical school graduates to complete a combined, five-year residency program in pediatrics and medical genetics.
… The Combined Pediatrics and Medical Genetics Residency Program is a remarkable … the diagnosis, management, and counseling of patients with genetic disorders. Combined residents gain broad experience in pediatrics, clinical and molecular genetics, metabolic diseases, and …
Research Funding
​CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care. ​
… becomes routine. Evidence regarding the most promising clinical applications and the specific diseases or individual susceptibilities most … Clinical sequencing across communities in the Deep South Genetic disorders in newborns Kaiser Foundation Research …
News Release
Dr. William Gahl, NHGRI Clinical Director, gave the Samuel Pruzansky Memorial Lecture on March 23 for the March of Dimes Clinical Genetics Conference.
… Judith Wyatt … Dr. William Gahl, clinical director at the National Human Genome Research … centers that receives patient applications, reviews them and decides which cases will be studied. Since opening for … Megan Grove @meganegrove Bill Gahl of @UDNconnect : w/ new genetic conditions, finding the 2nd case is rate limiting …