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- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program2
- 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
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… The Genetic Disease Research Branch studies the mechanisms by which genetic changes affect the structure and function of gene products leading to human disease. … A … in understanding how disruptions in signaling pathways and transcription factors contribute to disease. Our …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke, and have also uncovered new details about an important … control which genes are turned on and off, and when. But clinical trials of homocysteine-lowering therapies have not …
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.
… The Metabolism, Infection and Immunity (MINI) Section at the National Institutes of … 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.  …
Clinical Research
The INSIGHTS study is exploring sickle cell disease in adults.
… The Insights into Microbiome and Environmental Contributions to Sickle Cell Disease and … recruiting volunteers! Each study participant will have a clinical visit that will include a medical and family … how the combinations of factors (i.e., microbiome, genetic modifiers, environmental and social indicators) …
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.
… The JHU/NIH Genetic Counseling Training Program prepares students for a … Genetic Counseling from the Department of Health, Behavior and Society, 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 …
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.
… Board (IRB) is responsible for protecting the rights and welfare of the human subjects of research protocols that … An Introduction to Radiation for NIH Research Subjects NIH Clinical Research Studies Active Consent / Assent Documents … Privacy Of Research Participants, Clinical Trials, Genetic Disorders, Return Of Results, Genetic Discrimination …
Clinical Research
The Protocol Service Center provides assistance in the development and administration of study protocols requiring NIH Institutional Review Board approval.
… protocol navigation assistance to NIH investigators and staff in the development and administration of study … of resources for the investigator wishing to conduct clinical research. Services that the PSC can provide to … Privacy Of Research Participants, Clinical Trials, Genetic Disorders, Return Of Results, Genetic Discrimination …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of … years of age, most children experience recurrent seizures and diminishing mental function. The infant gradually regresses, and is eventually unable to crawl, turn over, sit or reach …
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 … in the studies. This raises the question of when and how it is appropriate for the scientists to look for and … IFs. … Currently, the only federal law regarding return of genetic IRRs and IFs is the Clinical Laboratory Improvement …
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 genetic and genomic technologies to study the genomes of … resources of NHGRI intramural laboratories, the NIH Clinical Center and intramural collaborations across NIH, the …