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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
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.
… letter, which circulated and spurred the anti-Human Genome Project letter campaign. The first line of the … to the Coleman, the project “wouldn’t have much appeal for me or my colleagues.” While it’s true that much 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.
… 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 Fonni, these fiercely protective creatures …
Staff
Sheethal Jose is a program director in NHGRI's Division of Genomics and Society.
… 2024 as a program director in the Division of Genomics and Society. She oversees a portfolio of research and career … on her doctoral dissertation at the Johns Hopkins Center for Bridging Infectious Disease, Genomics, and Society … 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).
… Can the proposed research be centered within a specialty genetics clinic? Yes, the FOAs are seeking applications that … can budgets be $200,000 direct costs in each year for 3 years? No, budget requests can be up to $200,000 direct … in any given year but cannot exceed $400,000 direct costs for the entire study. What does the RFA requirement 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 … that have been made since 2003, NHGRI is launching the '15 for 15' Celebration . … Annual Celebration of DNA This … 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.
… protein. Gene Therapy Research Offers Promise of a Cure for Cystic Fibrosis Gene therapy offers great promise for life-saving treatment for CF patients since it targets … 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.
… determine what you look like and what your risk might be for various diseases. But your genome doesn't 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.
… COL1A2 .The COL1A1 and COL1A2 genes provide instructions for making proteins that are used to create a larger molecule … to be fragile and easily broken and is also responsible for other health problems. Type I OI is the mildest form of … 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."
… Advisory Microbes inhabit just about every part of the human body, outnumbering human cells by ten to one. The … development and behavior, and to create research resources for this emerging field. … On August 16-18, 2017, NIH will … Ph.D., at 301-480-5289, or sheena.faherty@nih.gov , for more information and to discuss interview, filming and …
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… cause of this form of NF has not been found. … Symptoms for neurofibromatosis type 1 include: Presence of light brown … of other bones in the skeletal system. Symptoms for NF1 vary for each individual. Those that are skin-related … Neurofibromatosis Network Medline Plus: Neurofibromatosis Genetics Home Reference: Neurofibromatosis Type 1 Genetics …