Search Results
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 the cause of CF rather than … amount of salt in sweat - is the standard diagnostic test for those with symptoms. A high salt level indicates CF. But …
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 … the spine called "codfish vertebrae." Laboratory testing for OI may include either biochemical testing or DNA-based …
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 letter reads “The human genome project: mediocre science, terrible science … to the Coleman, the project “wouldn’t have much appeal for me or my colleagues.” While it’s true that much of the …
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… 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 are often … is diagnosed from a combination of findings. For children to be diagnosed with NF1, they must show at …
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
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.
… is a program director in NHGRI's Division of Genomics and Society. … is a program director in NHGRI's Division of Genomics and Society. …
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.
… 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 this milestone and the … that have been made since 2003, NHGRI is launching the '15 for 15' Celebration . …
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 ten-year, National Institutes … development and behavior, and to create research resources for this emerging field. … Ph.D., at 301-480-5289, or sheena.faherty@nih.gov , for more information and to discuss interview, filming and …
Healthcare Provider Genomics Education Resource
An FAQ designed to help healthcare professionals understand the diverse landscape of direct-to-consumer (DTC) genetic testing and the benefits and limitations of these tests.
… Direct-to-Consumer Genetic Testing for Healthcare Professionals What is direct-to-consumer … from a saliva sample. Ordering and return of results for DTC-GT typically does not involve health care … insurance to cover the cost of testing. MedlinePlus Genetics gives an overview of DTC-GT for patients. 1 …