Search Results
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 …