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Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… compensate for the mutation. Thus, they have normal immune systems. However, since males have only one X chromosome and … Clinical Research on SCID In 1990, National Institutes of Health (NIH) researchers performed the first successful human …
News Release
NHGRI researchers found that a protein in the immune system is particularly adaptable to mutations.
… adaptable. This flexibility has implications for public health and could inform the design of synthetic proteins. … without becoming ill themselves, which is a major public health issue as these viruses sometimes jump to human …
Educational Resources
A lymphocyte is a type of white blood cell that is part of the immune system.
News Release
Researchers have now identified three health conditions for which people with SCT are at increased risk.
… sickle cell trait (SCT) and most never have related health complications. Researchers have now identified three health conditions for which people with SCT are at increased … Institute (NHGRI), part of the National Institutes of Health. "We need more research to clarify the health outcomes …
For Health Professionals
Essential genomics competencies, practice guidelines, and curricular resources for a variety of health professions.
… tests and how results of DTC-GT may affect their patients’ health, wellness and medical decision making. … Tools for Collecting Family History My Family Health Portrait Web-based tool to create a family pedigree with health information for patients and their providers to …
The Genomics Landscape
In the July 2019 edition of The Genomics Landscape, NHGRI Director Eric Green reflects on the milestones of the Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) Program as it reaches completion.
… identification, association, and function in human health and disease. If you are in the Boston area, we welcome … General Hospital on July 17 and Genomics in Medicine & Health Strategic Planning Workshop on September 26-27.   To … and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the Newborn Sequencing …
FAQ
On September 6, 2023, the National Human Genome Research Institute hosted a pre-application webinar for the genomics-enabled learning health systems (gLHS) NOFOs: RFA-HG-23-041 and RFA-HG-23-042. Questions were answered during the webinar.
… demonstrating the imperative for broader adoption within health systems to enhance patient care. Applicants should discern … Do applicants need to have a learning health system in place to apply?   Yes, given the significant … amount of time required to implement a learning health system, applicants should already have, or should …
Genetic Disorders
Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems.
… muscular dystrophy that affects the muscles and other body systems. … muscular dystrophy that affects the muscles and other body systems. People who have myotonic dystrophy have muscle … muscular dystrophy that affects the muscles and other body systems. … muscular dystrophy that affects the muscles and other body systems. …
Event
On August 23, 2023, NHGRI will host a pre-application webinar for the Investigator-Initiated Research in Genomics and Health Equity RFAs:  RFA-HG-23-017 and RFA-HG-23-018. 
… for the Investigator-Initiated Research in Genomics and Health Equity RFAs:   RFA-HG-23-017  and  RFA-HG-23-018 .  … to support investigator-initiated research in genomics and health equity, with the ultimate goal of developing … that will advance the equitable use of genomics to improve health in U.S. populations.  Frequently Asked Questions …
Research Training
The NHGRI Social and Behavioral Research Branch invites recent graduates to pursue multidisciplinary training in genomics and health.
… to pursue multidisciplinary training in genomics and health. … that facilitate translation of genomic discoveries for health promotion, disease prevention, genetic counseling, and health care improvements. Trainees will work closely with … to pursue multidisciplinary training in genomics and health. …