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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Research at NHGRI
The Social and Behavioral Research Branch conducts research to apply genomic discoveries to improve health and clinical care.
… approaches for the integration of genomic discoveries into clinical and community contexts. … Our research focuses on a … this occurs. Further, we are probing the intersection of genetics, genomics and environment by carrying out genetic … through using animal models to explore these connections. Clinical translation of genomic discovery We approach …
News Release
A new study by scientists at NHGRI, suggests that iPSCs do not develop more mutations than cells that are duplicated by subcloning.
… that iPSCs are stable and safe to use for both basic and clinical research, Dr. Liu said. "Based on this data, we plan …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… autotemcel and exagamglogene autotemcel ), and through clinical trials . While there are a number of clinical trials for sickle cell gene therapy, the journey can … each step. … …  Step 1: Referral for participation in a clinical trial or a treatment  If you are referred to a …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… of Wisconsin hospitals from 1976-80. In 1984, he completed clinical genetics and clinical biochemical genetics fellowships at the NIH's …
Staff
Dr. Toro is a senior clinician in NHGRI's Office of the Clinical Director and co-director of the NIH Undiagnosed Diseases Program.
… in Bogota, Colombia. He completed his residency in Clinical Neurology from the University of Minnesota Hospitals and Clinics and is Board Certified in Clinical Neurology by the American Board of Psychiatry and … associated with the participants. Dr Toro mentors genetics fellows, students and residents in the program and …
Staff
Dr. Manoli is a pediatrician, clinical and biochemical geneticist in the Organic Acid Research Section of the Metabolic Medicine Branch at NHGRI.
… Eirini Manoli, M.D., Ph.D. … Dr Manoli is a pediatrician, clinical and biochemical geneticist in the Organic Acid … a postdoctoral research fellowship (NCCAM), followed by clinical and biochemical genetics training through the combined NHGRI and Children’s …
Staff
Dr. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.
… (FUSION), non-insulin dependent diabetes mellitus (NIDDM) genetics study and in the Integrated Network for Systematic … administered to older mice. This work supported the first clinical trial application for the use of FTIs to treat … Biography … Scientific Summary … Publications … Molecular Genetics Section Staff … Michael R. Erdos, Ph.D. … Dr. …
Clinical Research
FAQs for participants in the Autoinflammatory Diseases Study.
… look like? We tailor study activities to meet clinical needs and a patient’s ability to participate, so … need to travel to the National Institute’s of Health (NIH) Clinical Center for a more detailed clinical evaluation. … findings that the the American College of Medical Genetics and Genomics recommends for return. If we find one …
Staff
Dr. Sudre is an Associate Investigator in Dr. Philip Shaw's Neurobehavioral Clinical Research within the Social and Behavioral Research Branch
… Medical Center investigating the use of MEG for different clinical applications. … Dr. Gustavo Sudre works with Dr. Philip Shaw in the Neurobehavioral Clinical Research section of the Social and Behavioral … Investigator in Dr. Philip Shaw's Neurobehavioral Clinical Research within the Social and Behavioral Research …
Clinical Research
FAQs for Autoinflammatory Diseases Study providers and researchers.
… on new genetic discoveries. We can search our database of clinical and genetic data to see if we have a match. We may … Diseases Study providers and researchers. … Clinical Research …