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- 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
- 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
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)1
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program trains students to conduct research and provides clinical rotations to learn about genetic conditions.
… 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 … testing. Students are exposed to cutting-edge molecular genetics research at  the NIH, providing them a rich training …
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, … the researcher directly interacts with human subjects. Clinical researchers at the National Human Genome Research … mechanisms of inherited and acquired genetic disorders. … Clinical research is research conducted with human subjects, …
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 … ideal PI would be an investigator who is knowledgeable in genetics, but who does not currently have a major research …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… 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 … and Molecular Investigations into Ciliopathies Neuropathy Genetics of Type 2 Diabetes in West Africans Oral Clefts …
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 … on the following areas: Providing and overseeing expert clinical and administrative infrastructure and support for … Center. Supporting NHGRI's training programs in Medical Genetics and Genomics and Genetic Counseling.  To promote a …
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.
… 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 … patients, healthcare systems, scientific experts and genetics professionals. … The following groups are receiving …
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, 4:15 – … of Us Cohort P058 Design of the Prospective Study of the Clinical, Laboratory, and Dietary Determinates of Outcomes in …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… The Clinical and Basic Investigations of Methylmalonic Acidemia … of age. Be able to travel to and be admitted to the NIH Clinical Center in Bethesda, Maryland for 4 to 5 days each … Cobalamin Metabolism. GeneReviews at GeneTests: Medical Genetics Information Resource [online database]. Copyright, …
News Release
NIH is awarding $18.9 million towards research that aims to accelerate the use of genome sequencing in clinical care for all individuals.
… that aims to accelerate the use of genome sequencing in clinical care. The new awards will generate innovative … centers. … The research is being funded as part of the Clinical Sequencing Evidence-Generating Research (CSER2) Consortium. CSER2 builds upon the Clinical Sequencing Exploratory Research (CSER) Consortium , …
Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… volunteers for the study. Each member of the study has a clinical visit and tests to look at heart health. Study … CLINSEQ®? Possible benefits to you may include: Free clinical testing, such as testing for cholesterol and … 6 to 7 tablespoons of blood taken. This blood is used for clinical and genetic testing.  EKG, Echocardiogram and CT …