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- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
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 …
Research Funding
NHGRI aims to establish a research Consortium, ML/AI Tools to Advance Genomic Translational Research (MAGen), to collaboratively explore the feasibility of Machine Learning (ML) and Artificial Intelligence (AI) tools that can enhance the accuracy and precision of predicting how individuals with pathogenic genetic variants manifest disease.
… The need for increased research to develop tools to translate genomic research findings into clinical applications has been highlighted by NHGRI-convened … settings. … NHGRI aims to establish a research Consortium, ML/AI Tools to Advance Genomic Translational …
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 … can we all participate? Yes! As long as each person has evidence of a diagnosis of GNE Myopathy and signs informed …
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 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 …
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 …
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 … …
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 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 … Advancing Genomic Technology Development for Research and Clinical Application: NOT-HG-24-036  Investigator Initiated … 3, 2024  Population Genomic Screening in Primary Care Sequencing Center (U01 - Clinical Trial Optional) …