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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
News Release
ASHG members selected Leslie G. Biesecker, M.D., a clinical and molecular geneticist and investigator with NHGRI, as their new president-elect for 2019.
… Jeannine Mjoseth … American Society of Human Genetics (ASHG) members have selected Leslie G. Biesecker, M.D., a clinical and molecular geneticist and long-time investigator … ASHG … ASHG members selected Leslie G. Biesecker, M.D., a clinical and molecular geneticist and investigator with …
Clinical Research
The Metabolism, Infection and Immunity (MINI) Section aims to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease.
… 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.  … History Study of Children with Mitochondrial Disease NIH Clinical Center  Acute Infection in Mitochondrial Disease  …
News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… consent. … In a new analysis, a working group of the Clinical Sequencing Exploratory Research (CSER) Consortium … an ethical framework to guide pediatricians in pursuing clinical sequencing studies, interpreting results, and, … in 2010 to speed the integration of genomics into clinical medicine, is funded by the National Human Genome …
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program prepares students for a M.S in Genetic Counseling from Johns Hopkins Bloomberg School of Public Health.
… a minimum of six hundred contact hours of supervised clinical rotations in a variety of settings, and completion … and rotations in the areas of genetic counseling, human genetics, public health, public policy, research methodology, … Public Health.​ ​ … Genetic Counseling, Genetic Testing, Clinical Genomics, Genomics In Medicine, Genomic Medicine, …
Clinical Research
The INSIGHTS study is exploring sickle cell disease in adults.
… recruiting volunteers! Each study participant will have a clinical visit that will include a medical and family … study will take place at the National Institutes of Health Clinical Center in Bethesda, Maryland. Compensation will be … Disease, Leg Ulcers, Genetic Condition, Genetic Disorder, Clinical Trial, Research Study, Sickle Cell Trait … The …
Clinical Research
The Institutional Review Board (IRB)Â is responsible for protecting the rights and welfare of the human subjects of research protocols that are conducted by intramural investigators in NHGRI and a number of other institutes.
… An Introduction to Radiation for NIH Research Subjects NIH Clinical Research Studies Active Consent / Assent Documents … Federal-Wide Assurances (FWAs) FDA Guidance for IRBs, Clinical Investigators and Sponsors  FDA … Research Privacy, Privacy Of Research Participants, Clinical Trials, Genetic Disorders, Return Of Results, …
Clinical Research
The Protocol Service Center provides assistance in the development and administration of study protocols requiring NIH Institutional Review Board approval.
… of resources for the investigator wishing to conduct clinical research. Services that the PSC can provide to … Research Privacy, Privacy Of Research Participants, Clinical Trials, Genetic Disorders, Return Of Results, … requiring NIH Institutional Review Board approval. … Clinical Research …
Policy Issues
Clinical research may yield new health-related information about volunteers who have chosen to participate in the studies.
… When conducting clinical research studies, scientists may discover new … that a study participant in an investigation of the genetics of heart disease possesses a gene variant related to … law regarding return of genetic IRRs and IFs is the Clinical Laboratory Improvement Amendments of 1988 (CLIA) , …
Research at NHGRI
The Genetics and Molecular Biology Branch uses genomic technologies to study the human genome and other organisms and disease mechanisms.
… The Genetics and Molecular Biology Branch uses state-of-the-art … resources of NHGRI intramural laboratories, the NIH Clinical Center and intramural collaborations across NIH, the branch is engaged in basic, translational and clinical research, bringing the latest genomic and genetic …
Research Funding
Building upon a foundation of quantitative genetics laid over a century ago, applying modern genomic approaches to resolve how genetic and non-genetic factors shape variation in human diseases and traits.
… A major goal of human genetics is to decompose the sources of trait variation into … the Genetic Architecture of Complex Human Traits (R01 Clinical Trial Not Allowed) PAR-25-255 Application Due … the Genetic Architecture of Complex Human Traits (R21 Clinical Trial Not Allowed) PAR-25-256 Application Due …