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Clinical Research
FAQs for participants in the Autoinflammatory Diseases Study.
… What does study participation look like? We tailor study activities to meet clinical needs and a patient’s ability to participate, so … for parents of affected children Leukapheresis (rare) Research bone marrow aspiration and biopsy (rare; age 12 or …
Event
On April 10-11, the National Human Genome Research Institute (NHGRI) will sponsor a workshop titled Defining a Clinical Data Ecosystem for Genomic Health in Washington, DC.
… systems to be built, policies to be developed  Identify research directions for optimizing genomic data integration … (NHGRI) will sponsor a workshop titled Defining a Clinical Data Ecosystem for Genomic Health in Washington, DC. … genomic information would travel with the patient and the clinical use of it achieved through bioinformatics systems, …
Research Training
Institutional and individual funding from NHGRI to help scientists develop research and professional skills.
… to improve human health. The National Human Genome Research Institute (NHGRI) provides both institutional and … Institutes of Health has updated policies regarding clinical trials (CT): Clinical Trial Requirements for Grants … new policy including a tool to determine whether or not a study meet the NIH definition of a CT.   Good Clinical …
News Release
Researchers recommend more rigorous clinical study of dietary management practices for patients with IEMs, which may result in reformulating some medical foods.
… use is not carefully monitored and managed, according to a research team led by scientists at the National Human Genome … researchers contend that there is a need for more rigorous clinical study of dietary management practices for patients with IEMs, …
News Release
The Social Genomics Project aims to understand what people around the world think about the intersections between genomics, genetics and society.
… you may have encountered opportunities to participate in research studies through your healthcare provider, patient … . Today, researchers with the National Human Genome Research Institute (NHGRI) are harnessing the power of social … * to invite fans and followers to participate in the study. The hashtag, #your2cents helps brand the effort. "Much …
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… on the most puzzling medical cases referred to the NIH Clinical Center in Bethesda, Maryland. It was organized by the National Human Genome Research Institute (NHGRI), the NIH Office of Rare Diseases … a very limited number will be invited to proceed in the study following careful application review by the program's …
Event
Pre-Application Webinar for the NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-space Clinical Resource (ACR) (U24 Clinical Trial Not Allowed) Funding Opportunity Announcement
… Science Analysis, Visualization, and Informatics Lab-space Clinical Resource (ACR) (U24 Clinical Trial Not Allowed)   NOT-HG-23-003 : Notice of … … Related Content … The National Human Genome Research Institute (NHGRI) is hosting a webinar to provide an …
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.
… of Hereditary Transthyretin Amyloidosis in the All of Us Research Program Clinical Genetics and Therapeutics Session A March 14, 2024, … All of Us Cohort P058  Design of the Prospective Study of the Clinical, Laboratory, and Dietary Determinates …
News Release
An international team of researchers including NIH has completed the first comprehensive characterization of genomic diversity across sub-Saharan Africa.
… into genomic risk factors for disease in Africa. … The study provides clues to medical conditions in people of … scientific director of the NIH's National Human Genome Research Institute. "This is an important study that … primary federal agency conducting and supporting basic, clinical, and translational medical research, and is …
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 … leading to human disease. … A major focus of the branch's research lies in understanding how disruptions in signaling … of these investigations. Ongoing efforts include research aimed at understanding genetic contributions to a …