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About NHGRI
The Board of Scientific Counselors evaluates the NHGRI intramural research programs and provides periodic technical and scientific peer review.
… The Board of Scientific Counselors previews and evaluates the intramural research programs of the … for the full board meeting at which they present their evaluations. Board of Scientific Counselors Charter … … Amos, Ph.D. Baylor College of Medicine Institute for Clinical and Translational Research Term ends 6/2026 Gregory …
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.
… (ASHG) members have selected Leslie G. Biesecker, M.D., a clinical and molecular geneticist and long-time investigator with the … 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.
… 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.  …
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 …
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 …
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) …
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 …
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 …
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 …