Search Results
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 also have teeth problems (dentinogenesis imperfecta), and hearing loss when they are adults. People who have OI may … COL1A2 . Additional Resources on Osteogenesis Imperfecta Genetics Home Reference: Osteogenesis imperfecta Medline … Imperfecta Medscape: Osteogenesis Imperfecta Medscape: Genetics of Osteogenesis Imperfecta … What is Osteogenesis …
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… disorder that can affect the brain, spinal cord, nerves and skin. … Neurofibromatosis (NF) is a genetic neurological … Neurofibromatosis Network Medline Plus: Neurofibromatosis Genetics Home Reference: Neurofibromatosis Type 1 Genetics Home Reference: Neurofibromatosis Type 2 Children's …
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.
… sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas, which stops digestive enzymes from … Additional Resources for Cystic Fibrosis Information Genetics Home Reference Cystic Fibrosis Foundation Cystic … Fibrosis: Your Genes, Your Health What is Cystic Fibrosis? Genetics and Rare Diseases Information Center Finding …
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.
… Babies born with WAGR syndrome often have eye problems, and are at high risk for developing certain types of cancer, and mental disability. … WAGR syndrome is a rare genetic … National Wilms' Tumor Study National Eye Institute (NEI) Genetics and Rare Diseases Information Center Finding …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… too much of the mineral copper. Many foods contain copper, and it is important for people to have a small amount of … Wilson disease, copper builds up in the liver, brain, eyes and other organs. Over time, the extra copper can lead to … disease, hepatolenticular degeneration syndrome, WD and Wilson's disease. … Wilson disease may affect several of …
Staff
Dr. Adebowale Adeyemo is an associate investigator and deputy director of NHGRI's Center for Research on Genomics and Global Health.
… of Ibadan in Nigeria. After a residency in pediatrics and genetics, he became a faculty member of the College of … disorders, in particular hypertension, obesity and diabetes, are non-communicable conditions of major public …
Research at NHGRI
The NHGRI Cancer Genetics and Comparative Genomics Branch identifies and study genes that contribute to cancer susceptibility and progression.
… The Cancer Genetics and Comparative Genomics Branch seeks to identify and study genes that contribute to cancer susceptibility and … studies. In summary, the scientists of the Cancer Genetics and Comparative Genomics Branch work in a highly …
Event
On November 16-17, 2023, the National Human Genome Institute will co-sponsor a workshop, Advances in the Genetic Architecture of Complex Human Traits, to take a historically grounded and forward-looking approach towards dissecting the genetic architecture of complex traits in humans.
… Session 1 – Cells, Tissues, and Organs As we continue to catalog cell types and cell … vs behavioral traits)?  If there is a tight coupling of genetics and environment and potentially GxE effects, how … of Mendelian inheritance were early foci of human genetics that naturally emphasized family-based studies and …
News Release
NIH grants aim to gauge if genomics can be used to help diagnose diabetes, manage heart disease and guide cancer clinicians to the most effective drugs.
… aim to gauge if genomics can be used to help diagnose diabetes, keep heart disease patients out of hospitals and guide cancer clinicians and patients to the most effective drugs. … These pilot …
The Genomics Landscape
In the September 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details the American Society of Human Genetics' (ASHG) new strategic plan, which aims to get people everywhere to realize the benefits of genomics and genetics research.
… Mullis, inventor of the polymerase chain reaction (PCR) and Nobel Prize winner, passed away last month. The … the field of genomics.  …  The American Society of Human Genetics (ASHG) , a professional organization of over 8,000 human genetics and genomics specialists, has established a new …