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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
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- Impact of Genomic Variation on Function (IGVF) Consortium1
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Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… lost by nerve degeneration in individuals with HD. Genetic studies: Scientists are continuing to study inheritance patterns in families, including genetic studies of onset age, inheritance patterns and … UC Irvine researchers believe they've discovered how the genetic mutation alters chemical pathways to cause the …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… the disorder from both parents. When both parents have the genetic defect, there's a 25 percent chance that each child … some parents may choose not to continue the pregnancy. Genetic counselors can help parents make these difficult … with in vitro fertilization, called pre-implantation genetic diagnosis (PGD), enables parents who carry the sickle …
Genetic Disorders
Colon cancer is a malignant tumor of the large intestine that affects both men and women.
… majority of colon cancer cases are sporadic, which means a genetic mutation may happen in that individual person. … for cancer cells with the APC mutation in a stool sample. Genetic testing for HNPCC involves looking for mutations in … MSH6 , and PMS2 . Individuals in families at high risk of genetic predisposition may consider testing. Genetic …
Genetic Disorders
Hemophilia is a bleeding disorder that slows down the blood clotting process.
… have hemophilia B have low factor IX clotting activity. Genetic testing is also available for the factor VIII gene and the factor IX gene. Genetic testing of the FVIII gene finds a disease-causing … in up to 98 percent of individuals who have hemophilia A. Genetic testing of the FIX gene finds disease-causing …
Genetic Disorders
Skin cancer is the most common type of cancer in the United States.
… also play a role. UV radiation can damage the DNA, or genetic information, in skin cells, creating "misspellings" in their genetic code and, as a result, alter the function of those … generally are caused by a combination of environmental and genetic factors. With skin cancer, the environment plays a …
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
… of cholesterol levels, studies of heart function, and genetic testing. Blood testing of cholesterol levels may … of heart function, such as a stress test, may be abnormal. Genetic testing may show an alteration (mutation) in the LDL … Inheritance in Man eMedicine Diagnosing and Treating Genetic Diseases: Familial Hypercholesterolemia Genetics and …
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
… or in individuals who do not have the typical symptoms, genetic testing can be used to identify a mutation in the FGFR3 gene. Genetic testing can identify mutations in 99 percent of … the most common form of disproportionate short stature. … Genetic Disorders …
Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
… and identified in a familial Marfan patient(also known as genetic linkage to the gene). The FBN1 gene is the gene associated with the true Marfan syndrome. Genetic testing of the FBN1 gene identifies 70 - 93 percent … (tracking the gene for Marfan syndrome in a family using genetic markers). Additional Resources For Marfan Syndrome …
Genetic Disorders
Autism is characterized by impaired social interactions, problems with verbal and nonverbal communication and repetitive behaviors.
… or there is a family history of relatives with autism, genetic testing such as chromosome analysis and single-gene … and sisters will also have autism depends on the specific genetic cause. Additional Resources for Autism National … Autism Society Autism Speaks Autism Research Institute Genetic and Rare Disease Information Center … What is autism? …
Genetic Disorders
Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness.
… When symptoms are present, diagnosis can be made by genetic testing. Gene alterations (mutations) in the SMN1 and … copies of the SMN2 gene can modify the course of SMA. Genetic testing on a blood or tissue sample is done to … gene a person has, the less severe his or her symptoms. Genetic testing for a mutation in the VAPB gene is done to …