Search Results
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 …
Media Advisory
The National Institutes of Health (NIH) will host researchers from the Telomere-to-Telomere (T2T) consortium, who have now sequenced the remaining 8% of DNA that was unable to be sequenced by the Human Genome Project and has eluded researchers for nearly two decades.
… for nearly two decades. The National Human Genome Research Institute (NHGRI) will host a press conference in … What: Virtual press conference to announce T2T consortium sequencing a complete human genome Moderator: Eric Green, …
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 …
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 … On Nov. 12, Benjamin Solomon, M.D., started as NHGRI’s Clinical Director. In this position, he is responsible for …
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 … (ARDI): Advancing Genomic Medicine through rare diseases research in Africa Gabor T. Marth Martin Tristani-Firouzi … University of California, San Francisco Toward DNA Sequencing as a Primary Newborn Screen for Treatable …
Policy Issues
Federally-funded research with human participants must comply with regulations that protect the rights and welfare of the participants.
… The use of human participants in biomedical, clinical and social-behavioral research can provide insights and discoveries that could not … discoveries and achievements, including the complete sequencing of the human genome and identification of genetic …
News Release
A new phase of the IGNITE Network will conduct clinical trials of genomic medicine interventions.
… Ph.D. … A new phase of the IGNITE Network will conduct clinical trials of genomic medicine interventions. … The National Institutes of Health will fund clinical trials to assess the benefits, applicability and … treatments. These projects build upon the first phase of research from the IGNITE Network, which the National Human …
Event
To bring together communities of researchers working in machine learning (ML), NHGRI hosted the Machine Learning in Genomics: Tools, Resources, Clinical Applications and Ethics workshop on April 13-14, 2021.
… Eric Green, M.D., Ph.D. , Director, National Human Genome Research Institute Keynote Session: What are the … Session 12:55 p.m. - Break Session 4: Machine learning in clinical genomics Moderators: Casey Overby Taylor, Ph.D. … …  … Machine Learning in Genomics: Tools, Resources, Clinical Applications and Ethics … To bring together …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… are followed over time to understand the symptoms and clinical course of GNE myopathy. This information is … Identification of GNE gene disease-causing variants by DNA sequencing can confirm the diagnosis. GNE Myopathy patients … Or contact: Andrea I. Bowling, CRNP Research Nurse Practitioner andrea.bowling@nih.gov (301) …