Search Results
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… condition. This means that many people with ADPKD live for decades without developing symptoms of renal functional … or MRI studies of the kidneys. The diagnostic criteria for individuals who have a 50 percent risk of developing … through diet and blood pressure control. Genetic testing for PDK1 and PDK2 is also available for prenatal diagnosis …
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 …
Staff
Joy Boyer was a program director in NHGRI's Division of Genomics and Society.
… Joy Boyer has been a program official with the National Human Genome Research Institute (NHGRI) Ethical, Legal and … a program director in the NHGRI Division of Genomics and Society, Joy oversees a portfolio of research, training and … Research (CEER) consortium and is the principal contact for ELSI Training grants (T32) program. She also participates …
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 … people. When scientists agreed to use the one "reference" human genome sequence generated by the Human Genome Project …
Staff
Dr. Nicole Lockhart is a program director in NHGRI's Division of Genomics and Society.
… 2012 as a program director in the Division of Genomics and Society. Dr. Lockhart oversees a portfolio of research and … Group , a working group of the National Advisory Council for Human Genome Research. She participates in a variety of … is in biology and physiology. She also served as an American Association for the Advancement of Science (AAAS) …
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
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 …
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 …