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- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium2
- 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
- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
News Release
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
… will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center through awards just announced by the National … … The awards are part of a two-year initiative, called the Clinical Center Genomics Opportunity (CCGO), which is …
News Release
NIH awarded grants to six medical centers to select from the most difficult-to-solve medical cases and develop effective approaches to diagnose them.
… develop effective approaches to diagnose them. The clinical sites will conduct clinical evaluation and scientific investigation in cases … protocols designed to improve the level of diagnosis and care for patients with undiagnosed diseases. "The UDN will …
News Release
Genomic analyses turned up genes that belong to inflammatory pathways.
… the researchers at the National Institutes of Health (NIH) Clinical Center. … Transformative Research Rohith is just one … taking place at NIH is critical. The same cutting-edge clinical medicine that was used to help Rohith might help … gather at the NIH Clinical Center to discuss the patient's care. Image Credit: Ernesto del Aguila III, NHGRI  Dr. …
Clinical Research
A Longitudinal Natural History Study of Children with Mitochondrial Disease (at the NIH Clinical Center).
… to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease. … with mitochondrial disease can lead to worsening clinical symptoms, particularly neurologic symptoms.  … interested in research. Although we do provide advice and care for people enrolled in our study, we are not able to …
Staff
Dr. Benjamin Solomon is the Clinical Director in the Office of the Clinical Director at the National Human Genome Research Institute.
… Dartmouth. He completed medical training in pediatrics and clinical genetics through a joint Children’s … bioinformaticists, and bench-based scientists to deliver clinical care and conduct genomic research. In 2016, Dr. Solomon …
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. … GNE Myopathy is a rare ( … are followed over time to understand the symptoms and clinical course of GNE Myopathy and related disorders. This …
Clinical Research
This team-based clinical service os provided by NHGRI to Intramural Investigators employing exome/genome sequencing.
… Secondary Genomics Findings Service (SGFS) is a team-based clinical service provided by NHGRI to Intramural … Secondary Genomics Finding Service (SGFS) is a team-based clinical service provided by NHGRI to Intramural … Variant, Gene Variant, Gene Variation … This team-based clinical service os provided by NHGRI to Intramural …
Staff
Dr. Oleg Shchelochkov is Director of NHGRI Clinical and Laboratory Residencies and Fellowships, and an Associate Investigator in the Office of the Clinical Director.
… Dr. Shchelochkov is a board-certified pediatrician, clinical geneticist and medical biochemical geneticist, and … NHGRI appointed Dr. Shchelochkov as the new Director of Clinical and Laboratory Residencies and Fellowships. Dr. … publications and book chapters. … Dr. Shchelochkov’s clinical research has focused on understanding the natural …
News Release
Research studies are now using polygenic risk scores to determine a person’s inherited risk for certain diseases, but there are inconsistencies in how these scores are calculated. NHGRI has published guidelines in Nature for how these scores should be reported.
… to compromise the adoption of polygenic risk scores in clinical care. To address this concern, the research teams, funded … in their studies. This framework — created by NHGRI’s Clinical Genome Resource's (ClinGen) Complex Disease Working …
Leadership Initiatives
The Genomics and Health Disparities Interest Group provides a forum to connect individuals from different scientific disciplines across the National Institutes of Health (NIH) and researchers in the Washington D.C. metropolitan area engaged in genomics and health disparities research, as well as provide opportunities for professional development, networking and community engagement.Â
… role of genomics in disease risk and its integration into clinical care is increasingly important to critically examine how new … community engagement. … health disparities, disease risk, clinical care, interest groups … The Genomics and Health …