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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
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Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… presence of aPL antibodies. … There are no hard and fast statistics about the number of people with aPL antibodies or … are associated with clots in the arteries and veins. … Genetic Disorders …
News Release
When it comes to Attention-Deficit/Hyperactivity Disorder (ADHD), genetics do make an impact.
… little significance alone, but together they increase the genetic risk for certain symptoms of the disorder. The more ADHD related genetic variations a person has, the more likely they are to … in isolation. Adding them all up can provide you with a 'genetic risk score' (called the polygenic risk score) that …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… likely to develop the condition. Genetics: The Basics Our genetic material is stored in the center of every cell in our bodies (skin cells, hair cells, blood cells). This genetic material comes in individual units called genes. We … complete sets of DNA, or genomes, of many people to find genetic variations associated with a particular disease. GWAS …
Genetic Disorders
Prostate cancer is a disease where certain cells in the prostate become abnormal and multiply to form a tumor.
… Research studies are helping scientists to understand the genetic factors that have a role in inherited risk for … cancer, and research is ongoing regarding combinations of genetic changes that increase prostate cancer risk. More research is required to fully determine the genetic risk factors for prostate cancer. … Genetic testing …
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
Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems.
… discharge. The definitive test for myotonic dystrophy is a genetic test. For this test, a blood sample is taken to … CNBP gene NINDS Muscular Dystrophy Information Page Genetic Testing Registry: Myotonic Dystrophy Type 1 Genetic Testing Registry: Myotonic Dystrophy Type 2 Muscular …