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Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… available at the National Institutes of Health (NIH), clinical researchers at the National Human Genome Research Institute (NHGRI) are leading a new era in medicine … ways to diagnose, treat and prevent illness. … NHGRI clinical research and field work also spans a wide spectrum …
For Patients and Families
​Clinical research is research conducted with human subjects, or material of human origin, in which the researcher directly interacts with human subjects.
Clinical research is research conducted with human subjects, or material of human … the researcher directly interacts with human subjects. Clinical researchers at the National Human Genome Research
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program trains students to conduct research and provides clinical rotations to learn about genetic conditions.
… trains students to conduct social, behavior and policy research in the field of genetic counseling and provides clinical rotations for students to learn directly about … and the role of the professional genetic counselor. … Clinical rotations begin in the second quarter of the program …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… Researchers at the National Human Genome Research Institute (NHGRI) are working with patients and … to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease. … Clinical studies give us a better understanding of how genes …
Research at NHGRI
The NHGRI Office of the Clinical Director supports world-class clinical research and enhances the education of genetics investigators at all levels.
… The Office of the Clinical Director (OCD) provides oversight and guidance to … the OCD focuses on the following areas: Providing expert clinical and administrative infrastructure for all NHGRI clinical research protocols, as well as basic science studies …
Event
The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory medicine and clinical trials in Mendelian disorders.
… The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on …
Archive
Clinical Research and Trials Resources Online … Archive …
Secondary Genomics Finding Service
Clinical Research Staff and Protocol Coordinators
… Genomic Variant Confirmation (CRIS) for confirmation of research findings. … 4. Confirmation and genetic counseling … that variants in 59 genes be returned to people undergoing clinical sequencing - this is frequently referred to as the … annotation and return of actionable secondary findings in clinical sequencing; contains the "ACMG 59 gene list"   …
Research Training
The Clinical Center Genomics Opportunity promotes precision medicine and development of infrastructure to support clinical genomics at the NIH Clinical Center.
… The Clinical Center Genomics Opportunity promotes precision … and spurs the development of infrastructure to support clinical genomics in the NIH Clinical Center. … The program … Institutes to effectively use genomic data in clinical research and clinical care. The NIH Office of Intramural …
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… Medical and research centers are increasingly sequencing patient exomes … information on only a few genomic variants is used in clinical practice. One factor that limits the clinical use of variant information is the lack of openly …