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- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- 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
Event
To bring together communities of researchers working in machine learning (ML), NHGRI hosted the Machine Learning in Genomics: Tools, Resources, Clinical Applications and Ethics workshop on April 13-14, 2021.
… p.m. - Christina Leslie Ph.D. , Memorial Sloan-Kettering Cancer Center The 3D genome and predictive gene regulatory … ethical and socially responsible AI systems in Health Care    4:00 p.m. - Danton Char, M.D. , Stanford University … Session 12:55 p.m. - Break Session 4: Machine learning in clinical genomics Moderators: Casey Overby Taylor, Ph.D. …
Funded Research
The Advancing Genomic Medicine Research (AGMR) program stimulates innovation and advance understanding of when, where and how best to implement the use of genomic information and technologies in clinical care.
… Sean David University of Chicago Integrative Analyses of Clinical Pharmacogenetic Data to Prevent Hospital Readmission … Vanderbilt University Medical Center Translating the Clinical Knowledge of Mendelian Diseases to Real-World EHR … Supporting Team-Based, Longitudinal Genomic Diagnostic Care Katherine L. Nathanson Marylyn D. Ritchie Robert A. …
News Release
NIH researchers have uncovered a key factor in understanding the elevated cancer risk associated with gene therapy.
… have uncovered a key factor in understanding the elevated cancer risk associated with gene therapy. They conducted … in the Jan. 20, 2015, online issue of the Journal of Clinical Investigation . … "Effective and safe gene therapies … primary federal agency conducting and supporting basic, clinical, and translational medical research, and is …
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 … autoimmune diseases.  W. Marston Linehan, M.D., National Cancer Institute , will use exome sequencing data from 100 …
Media Availability
TCGA researchers have found that chromophobe renal cell carcinoma stems partly from gene alterations in the mitochondria, the cell's energy supplier.
… Steven Benowitz … Media Availability Researchers in The Cancer Genome Atlas (TCGA) Network have made a number of new … about the biology and development of a rare form of kidney cancer. … They found that the disease - chromophobe renal … primary federal agency conducting and supporting basic, clinical, and translational medical research, and 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 … and bench-based scientists to deliver clinical care and conduct genomic research. In 2016, Dr. Solomon … complexes in neurodevelopmental disorders and cancer . Sci Adv, 6(4):eaax0021. doi: …
Clinical Research
This team-based clinical service is 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 is provided by NHGRI to Intramural …