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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
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… (PKD) is a genetic disorder characterized by the growth of numerous cysts in both kidneys. The progressive expansion … of Diabetes and Digestive and Kidney Diseases MedlinePlus Genetics Home Reference PKD Foundation American Kidney Fund National Kidney Foundation ARPKD/CHF …
Virtual Exhibit
The Human Genome Project changed traditional understandings of how and why scientific research is conducted. It was, however, not without its detractors. Early in 1990, there was an effort to stop funding for the nascent Human Genome Project, in the form of a letter writing campaign.
… Caption: A copy of the first page of Martin Rechsteiner’s letter, which circulated and spurred the anti-Human Genome Project letter campaign. The first line of the … Hildebrand, Ph.D., at University of Arizona, wrote “[o]ur society cannot afford that kind of price tag on such an …
News Release
NIH researchers have sequenced the whole genome of a dog native to Sardinia, Italy, and discovered in it clues about the migration of humans to the area.
… Jeannine Mjoseth … National Institutes of Health (NIH) researchers have sequenced the whole genome … DNA sequence.) The findings, by scientists at the National Human Genome Research Institute (NHGRI), part of NIH, and … were reported August 12, 2016 in the journal, Genetics . … Called Fonni's Dogs, named for the city of …
Staff
Sheethal Jose is a program director in NHGRI's Division of Genomics and Society.
… in January 2024 as a program director in the Division of Genomics and Society. She oversees a portfolio of research and career … actionable monogenic findings from clinical sequencing . American Journal of Human Genetics . 2023; 110(11), …
Research Funding
Frequently asked questions for Investigator-Initiated Research on Genetic Counseling Processes and Practices FOAs (RFA-HG-20-048 and RFA-HG-20-049).
… counseling experience need(s) to be an integral part of the research team including being involved in research … consideration. Such concerns include having a diversity of investigators involved in the research program.  Should I …  Can the proposed research be centered within a specialty genetics clinic? Yes, the FOAs are seeking applications that …
News Release
NHGRI celebrated the 15th anniversary of the Human Genome Project with a "15 for 15" Celebration that commemorates the genomic advances since 2003.
… Palmer … On April 25th - National DNA Day - the National Human Genome Research Institute (NHGRI) will celebrate the 15th anniversary of the completion of the Human Genome Project. To commemorate … 3 p.m. Eastern: Ask a genetic counselor with the National Society of Genetic Counselors Thursday, April 26th, 2018, …
Genetic Disorders
Cystic fibrosis is a genetic disease that causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas.
… discovered in 1989. Since then, more than 900 mutations of this single gene have been identified. In normal cells, … defective protein. Gene Therapy Research Offers Promise of a Cure for Cystic Fibrosis Gene therapy offers great … Additional Resources for Cystic Fibrosis Information Genetics Home Reference Cystic Fibrosis Foundation Cystic …
15 Ways Genomics Influences Our World
​Genomics is helping us understand what makes each of us different and what makes us the same.
… Genomics is helping us understand what makes each of us different and what makes us the same. … Did you know … entirely define you. Well before the completion of the Human Genome Project, researchers began developing tools to … see true joy in their online gallery, " The New Faces of Genetics And Beyond ." Rick has gone on to create projects …
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… OI type II) to average. There are four well-known types of OI. These types are distinguished mostly by fracture … and by characteristic features. Three additional types of OI (type V, VI and VII) have also been identified. The … COL1A2 . Additional Resources on Osteogenesis Imperfecta Genetics Home Reference: Osteogenesis imperfecta Medline …
Media Advisory
On August 16-18, 2017, NIH hosted a workshop, "The Human Microbiome: Emerging Themes at the Horizon of the 21st Century."
… … Media Advisory Microbes inhabit just about every part of the human body, outnumbering human cells by ten to one. The ten-year, National Institutes of Health (NIH) Common Fund Human Microbiome Project was …