Search Results
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 …
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 …
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, …
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), …
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 …
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… known as von Recklinghausen's NF, is the more common of the types. It occurs in approximately 1 in 4,000 births. … occurs less frequently- 1 in 40,000 births. Occurrences of NF1 and NF2 are present among all racial groups and affect … Neurofibromatosis Network Medline Plus: Neurofibromatosis Genetics Home Reference: Neurofibromatosis Type 1 Genetics …