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Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of … Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly occurring in children, that … a carrier. Eastern European (Ashkenazi) Jews at Greater Risk for Tay-Sachs Disease: While anyone can be a carrier of …
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… by the interaction of multiple genes and environmental factors. … diseases. This stands in contrast to a “simple” genetic disease that is more directly caused by mutations in a single gene. Common examples of complex genetic diseases include heart disease, diabetes, and cancer. …
News Release
Artificial intelligence tools help scientists decode genomic disorders and communicate genomic risks
NHGRI researchers are increasingly using artificial intelligence tools to answer compelling questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how genomic information influences decision-making.
… sophisticated technologies to diagnose, monitor and treat genetic conditions. Artificial intelligence tools , which … , find disease-causing genomic variants and identify genetic disorders by examining people’s faces . Researchers … compelling questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how …
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
… identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called DADA2 (deficiency of adenosine … decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… Autosomal Dominant Polycystic Kidney Disease (PKD) is a genetic disorder characterized by the growth of numerous … and in all races. Polycystic kidney disease (PKD) is a genetic disorder characterized by the growth of numerous … found in about 15 percent of individuals who have ADPKD. A genetic test can detect mutations in the PKD1 and PKD2 genes, …
Educational Resources
Gene environment interaction is an influence on the expression of a trait that results from the interplay between genes and the environment.
… Genes, Environmental Factors, Genetics, DNA … or more genes interact in complex ways with environmental factors, such as chemicals in the air or water, nutrition, …
Talking Glossary
GMO (short for “genetically modified organism”) is a plant, animal or microbe in which one or more changes have been made to the genome, typically using high-tech genetic engineering, in an attempt to alter the characteristics of an organism.
… have been made to the genome, typically using high-tech genetic engineering, in an attempt to alter the … have been made to the genome, typically using high-tech genetic engineering, in an attempt to alter the … have been made to the genome, typically using high-tech genetic engineering, in an attempt to alter the …
Staff
Dr. Klein is an Adjunct Investigator in NHGRI’s Center for Precision Health Research, where he collaborates on several projects involving genetic risk communication
… where he collaborates on several projects involving genetic risk communication. His main appointment is as associate … risk communication; the influence of affective factors and ambiguity on health decisions; and the role of … RA, Kaufman AR. How (or Do) People "Think" About Cancer Risk, and Why That Matters. JAMA Oncol, 2020 Jul 1; …
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… Neurofibromatosis is a genetic neurological disorder that can affect the brain, … Neurofibromatosis (NF) is a genetic neurological disorder that can affect the brain, … A rare form of NF is schwannomatosis. However, the genetic cause of this form of NF has not been found. …
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.
… Wilson disease is a rare genetic condition that causes a person's body to store too … Wilson disease is a rare genetic condition that affects about one in 30,000 people. … Low levels of white blood cells Low levels of clotting factors called platelets Slow clotting of blood High levels …