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- Ethical, Legal and Social Implications (ELSI) Research Program5
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- 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 Awards1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- 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
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… Ph.D. … NIH-funded ClinGen panel also validates three genes believed to be associated with long QT syndrome … … definitively associated with the most common form of the disease. The work was funded by the National Human Genome Research Institute (NHGRI), part of the National …
Educational Resources
A gene pool is the total genetic diversity found within a population or a species.
… within a population or a species. … Genetic Diversity, Genes, Extinction, Population Genetics … A gene pool refers to the combination of all the genes (including alleles) present in a reproducing population …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… Jeannine Mjoseth … National Human Genome Research Institute (NHGRI) researchers are highlighting rare disease research that benefits affected patients and also … studies of Gaucher disease, we hope to identify pathways, genes and therapies that might be involved in or affect …
Educational Resources
Gene therapy is an experimental technique for treating disease by altering the patient's genetic material.
… … Gene therapy is an experimental technique for treating disease by altering the patient's genetic material. … Genetic Disease, Genetic Disorder, Gene Mutation, Cancer Treatment, … technique that uses a gene(s) to treat, prevent or cure a disease or medical disorder. Often, gene therapy works by …
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… of Health (NIH), clinical researchers at the National Human Genome Research Institute (NHGRI) are leading a new era … a more profound understanding of the biological basis of disease will pave the way for more effective ways to … gene discoveries, including the identification of genes responsible for holoprosencephaly, for a variety of …
For Patients and Families
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.
… A rare disease is generally considered to be a disease that affects … … Examples of rare diseases caused by mutations in single genes include cystic fibrosis, which affects the respiratory … NIH, which is part of the U.S. Department of Health and Human Services, established the Office of Rare Diseases …
News Release
NIH has awarded grants of more than $28 million aimed at deciphering the language of how and when genes are turned on and off.
… million aimed at deciphering the language of how and when genes are turned on and off. These awards emanate from the … Genomics of Gene Regulation (GGR) program of the National Human Genome Research Institute (NHGRI), part of NIH. … … to work together can be important for understanding disease," said Mike Pazin, Ph.D., a program director in the …
Clinical Research
GENE-FORECAST® is developing a community cohort and resource for defining the significance of ancestry-related genomic variation in African-Americans.
… Factors and the Social Determinants of Cardiovascular Disease in Africans Americans Study (GENE-FORECAST®) study is … of the potential effect of the DNA variant of interest on human systems biology. In some cases family members of the … by improving our knowledge of the relationship between genes, social factors, the environment and cardiovascular …
Virtual Exhibit
The Gene Sweepstakes — or GeneSweep as it became popularly known — was a three-year-long, sweepstakes-style contest organized by British bioinformatician Ewan Birney, Ph.D., of the European Bioinformatics Institute. Scientists participated in the contest by betting on the total number of protein-coding genes that would be identified in the human genome sequence generated by the Human Genome Project.
… database to help researchers explore the locations of genes across the immense human genome sequence. Dr. Birney and his colleagues began … Project in 1999 in anticipation of the completion of the Human Genome Project.  As genes were identified, the …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… The Centers for Common Disease Genomics (CCDG) are a collaborative large-scale … and protective variants contributing to multiple common disease phenotypes. … The CCDG initiative explores a range of … variant discovery for enough different examples of disease architectures and study designs to better understand …