Search Results
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) …
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 …
Fact Sheet
Today, gene therapy for sickle cell disease is considered experimental and only available to you if you participate in a clinical trial.
… …  Step 1: Referral for participation in a clinical trial  If you are referred to a certain trial, you should learn about: Phases of a clinical trial. Study outcome(s). How researchers will know … therapy is working and to track your overall health. Your research team and other clinical providers should discuss …
Clinical Research
The INSIGHTS study is exploring sickle cell disease in adults.
… recruiting volunteers! Each study participant will have a clinical visit that will include a medical and family … may want to participate in this study. We will utilize new sequencing technology and social science approaches to … Cell Disease Sickle Cell Trait National Human Genome Research Institute - Learning about Sickle Cell Disease …
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.
… 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.  … Virtual Participation | Participate Now ! … Clinical Research Studies … Meet the Team … Additional Resources … …
Policy Issues
Participating in genomics research is an opportunity to support exploration of the genome and help scientists understand, prevent, detect and treat disease.
… Participating in genomics research is an opportunity to support scientific exploration … some care as part of your participation. To receive clinical care, you should consult your regular physician. How … and results database of federally and privately supported clinical trials conducted in the United States and around the …
Research Funding
A list of funding opportunities in genomics research provided by NHGRI and the National Institutes of Health.
… The National Human Genome Research Institute supports research and training and career … Regional Genomic Medicine eConsult Services (U01 Clinical Trials Optional) Application Due Date(s): May 30, … for Inherited Disease Research (CIDR) High Throughput Sequencing and Genotyping Resource Access (X01 Clinical Trial …
Research Funding
NHGRI solicits grant applications that relate to its scientific priorities and research interests
… submitted to the National Institutes of Health (NIH) for research or research training are investigator-initiated proposals. These … special grant solicitations targeted toward specific research interests and priorities. Program announcements (PA) …
Research Funding
NSIGHT explores the implications, challenges and opportunities with the use of genomic sequence information in the newborn period.
… meeting, Newborn Screening in the Genomic Era: Setting a Research Agenda. Funding is provided jointly by the Eunice … of data available for analysis in the newborn period. Clinical research that will advance understanding of specific … (ELSI) of the possible implementation of genomic sequencing of newborns.  Each research project collects a …
Research Training
The Postdoctoral Intramural Research Training Award provides full-time, semi-independent research in NHGRI laboratories.
… The Postdoctoral Intramural Research Training Award (IRTA) is available to promising … who are interested in pursuing full-time, semi-independent research in National Human Genome Research Institute (NHGRI) laboratories. … Post-doctoral …