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Clinical Research
A Longitudinal Natural History Study of Children with Mitochondrial Disease (at the NIH Clinical Center).
… 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.    … treatments in the future. At the NIH, we are interested in research. Although we do provide advice and care for people …
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, … Predicting Genetics Referrals P224  Using long-read sequencing for genomic and epigenomic analysis in …
News Release
Researchers and clinicians are sequencing human genomes faster than ever, so considering the societal implications of genomic data is even crucial.
… in 1990 with the anticipation that once we started generating massive amounts of human genomic data, there'd be … factors to consider. Now, researchers and clinicians are sequencing human genomes faster than ever, so considering the … question where there has been a lot of debate within the clinical genomics, pediatric and bioethics communities. …
Clinical Research
The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study explores the genetic factors contributing to ADHD to improve treatment in the future.
… The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study is exploring the genetic factors that … the future. … ADHD often appears to run in families, and research studies have suggested that there may be a genetic … contributing to ADHD to improve treatment in the future. … Clinical Research …
The Genomics Landscape
In the December 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights Ben Solomon joining NHGRI as Clinical Director.
… I plan to provide regular updates about NHGRI and genomics research, news, and events. Follow and engage with me via @ … institute and the field of genomics. … Ben Solomon, NHGRI Clinical Director, with NHGRI Director Dr. Eric Green and … Opportunity Announcements for Mendelian Genomics Research Consortium All of Us Research Program issues funding …
News Release
NHGRI convened geneticists, biologists, clinicians, bioinformatics specialists and more to provide expert advice on the future of its Genome Sequencing Program.
… provide expert advice on the future of its flagship Genome Sequencing Program (GSP). … The two-day meeting, titled, … includes the Centers for Mendelian Genomics program, the Clinical Sequencing Exploratory Research (CSER) program and … and studies need to be done to set standards and find evidence of what works." Workshop organizer and GSP program …
News Release
Scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans.
… diversity is in African populations, consistent with evidence that humans originated in Africa and that migrations … in on regions affecting disease more precisely. Instead of sequencing the genomes of all the people in a study, which … primary federal agency conducting and supporting basic, clinical, and translational medical research, and is …
Research Training
An opportunity for students to receive individualized research mentoring, learn about careers in genomics and have access to a network of early-career genome scientists.
… M.D., Ph.D., NHGRI Director … The National Human Genome Research Institute (NHGRI) Division of Intramural Research is … workforce of genome scientists in basic, behavioral, clinical and social science research.   iSPRinG … Genomics (iSPRinG), Training Programs, Medical Genetics, Clinical Genetics, Molecular Genetics, Genetic Disorders … An …
Funded Research
The Advancing Genomic Medicine Research (AGMR) program stimulates innovation and advance understanding of when, where and how best to implement the use of genomic information and technologies in clinical care.
… Vanderbilt University Medical Center Translating the Clinical Knowledge of Mendelian Diseases to Real-World EHR … University of California, San Francisco Toward DNA Sequencing as a Primary Newborn Screen for Treatable … University of California, San Francisco Building the Evidence Base for Appropriate and Efficient Implementation of …