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Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… Amyloidosis in the All of Us Research Program Clinical Genetics and Therapeutics Session A March 14, 2024, … of Us Cohort P058 Design of the Prospective Study of the Clinical, Laboratory, and Dietary Determinates of Outcomes in … Pyrimidine Metabolism Disorders P127 Where Epigenetics, Cancer and Hypoxia meet P134 Neuronal Pathways by …
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. …
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 . … primary federal agency conducting and supporting basic, clinical, and translational medical research, and is …
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.
… Vanderbilt University Medical Center Translating the Clinical Knowledge of Mendelian Diseases to Real-World EHR … Sean David University of Chicago Integrative Analyses of Clinical Pharmacogenetic Data to Prevent Hospital Readmission … Supporting Team-Based, Longitudinal Genomic Diagnostic Care Katherine L. Nathanson Marylyn D. Ritchie Robert A. …
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.  … is to understand the relationship between infection and clinical decline in patients with mitochondrial disease. …
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 …
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 … This team-based clinical service is provided by NHGRI to Intramural …
Media Availability
TCGA researchers have found that chromophobe renal cell carcinoma stems partly from gene alterations in the mitochondria, the cell's energy supplier.
… 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. … 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 … Each clinical site will contribute local medical expertise to the … 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. … 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. …