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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
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… Italian, Greek, Middle Eastern, Southern Asian and African Ancestry. The two main types of thalassemia are called … deficiency of adult hemoglobin. … Blood tests and family genetic studies can show whether an individual has … both parents are carriers, they may want to consult with a genetic counselor for help in deciding whether to conceive or …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… frequently among individuals who are of Ashkenazi Jewish ancestry. Type 1 Gaucher disease is present 1 in 500 to 1 in 1000 people of Ashkenazi Jewish ancestry, and approximately 1 in 14 Ashkenazi Jews is a … called glucocerebroside cannot be adequately degraded. … Genetic Disorders …
Genetic Disorders
Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems.
… dystrophy is as common as Type 1 in people who have German ancestry. … People who have myotonic dystrophy have … 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 …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… Crohn's disease, especially in families of Jewish ancestry. Children who have one parent with Crohn's disease … usually diagnosed in people between the ages of 20 - 30. … Genetic Disorders …
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 …