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- Genome Technology Program1
- Human Genome Reference Program (HGRP)1
- Impact of Genomic Variation on Function (IGVF) Consortium2
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)1
Research Funding
The IGNITE PTN supports a network of multi-site clinical groups involving diverse settings and populations to conduct two pragmatic clinical trials of genomic medicine interventions.
… develop methods for incorporating genomic information into clinical care and explore the methods for effective implementation, diffusion, and sustainability in diverse clinical settings. The first phase of the network, IGNITE I …
Research Funding
​CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care. ​
… becomes routine. Evidence regarding the most promising clinical applications and the specific diseases or individual … Incorporation of comprehensive genomic sequence data into clinical care will require changes to institutional policies, … practitioners, and clinical laboratories that influence implementation of clinical genome sequencing; and 3) identify …
Research Training
The Clinical Center Genomics Opportunity promotes precision medicine and development of infrastructure to support clinical genomics at the NIH Clinical Center.
… The Clinical Center Genomics Opportunity promotes precision … and spurs the development of infrastructure to support clinical genomics in the NIH Clinical Center. … The program provides an exciting …
For Patients and Families
​Clinical research is research conducted with human subjects, or material of human origin, in which the researcher directly interacts with human subjects.
… Clinical research is research conducted with human subjects, … the researcher directly interacts with human subjects. Clinical researchers at the National Human Genome Research … mechanisms of inherited and acquired genetic disorders. … Clinical research is research conducted with human subjects, …
Events
NHGRI sponsored the IGNITE and Beyond: The Future of Genomic Medicine Implementation meeting in Bethesda, Md, on August 30, 2016.
… the IGNITE and Beyond: The Future of Genomic Medicine Implementation meeting at the John Edward Porter Neuroscience … and evaluate key scientific contributions of the Implementation of Genomics in Practice (IGNITE) Network, … and goals that would fill gaps in genomic medicine implementation, and identify optimal topics and study designs …
Research Funding
IGNITE enhances genomic medicine by supporting the development of methods for incorporating genomic information into clinical care.
… genomics field have slowly started to find applications in clinical care. The field of "genomic medicine" could … into the electronic medical record (EMR) and provide clinical decision support (CDS) for implementation of appropriate interventions or clinical …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease. … Clinical studies give us a better understanding of how genes … tests and treatments. Deciding whether to participate in a clinical study is an important and personal process. Some …
Leadership Initiatives
The 2021 NHGRI Action Agenda for a diverse genomics workforce is an ambitious set of goals and objectives to enhance the representation individuals from diverse backgrounds including those from underrepresented groups in the genomics workforce. The Action Agenda: Progress Report and Implementation Plan details the programs and projects that have been enacted since its release.
… genomics workforce. The Action Agenda: Progress Report and Implementation Plan details the programs and projects that … workforce includes persons underrepresented in biomedical, clinical, behavioral, and social sciences research, as well … transition programs that lead to independent research and clinical careers in genomics. Objectives: 3.1: Identify and …
Event
NHGRI sponsored the Genomic Medicine XI: Research Directions in Genomic Medicine Implementation meeting in La Jolla, California, September 5-6, 2018.
… Medicine XI: Research Directions in Genomic Medicine Implementation  - at the Hilton La Jolla Torrey Pines hotel … were to: Summarize the current status of genomic medicine implementation research. Identify obstacles to genomic … implementation and how to overcome them. Define where clinical implementation of genomic medicine could or should …
News Release
NIH is awarding $18.9 million towards research that aims to accelerate the use of genome sequencing in clinical care for all individuals.
… that aims to accelerate the use of genome sequencing in clinical care. The new awards will generate innovative … centers. … The research is being funded as part of the Clinical Sequencing Evidence-Generating Research (CSER2) Consortium. CSER2 builds upon the Clinical Sequencing Exploratory Research (CSER) Consortium , …