Search Results
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… syndrome often have eye problems, and are at high risk for developing certain types of cancer, and mental … for WAGR Syndrome International WAGR Syndrome Association American Kidney Fund, Inc. American Cancer Society, Inc. American Childhood Cancer Organization Aniridia …
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 … of Diabetes and Digestive and Kidney Diseases MedlinePlus Genetics Home Reference PKD Foundation American Kidney Fund National Kidney Foundation ARPKD/CHF …
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 …
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 …
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), …
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 …