Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Divisions
Programs
- 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
News Release
Healthcare professionals now have access to a range of educational and clinical genomics resources on the Genetics/Genomics Competency Center website
… developed with input from an editorial board of nurses, genetic counselors, physicians, physician assistants and … for Molecular Pathology , the National Society of Genetic Counselors , the American College of Clinical … including: Genomic Technologies for Oncology Researchers Genetic Testing Registry Training Residents in Genomics …
News Release
Dr. William Gahl, NHGRI Clinical Director, gave the Samuel Pruzansky Memorial Lecture on March 23 for the March of Dimes Clinical Genetics Conference.
… Megan Grove @meganegrove Bill Gahl of @UDNconnect : w/ new genetic conditions, finding the 2nd case is rate limiting …
Genetic Disorders
Autism is characterized by impaired social interactions, problems with verbal and nonverbal communication and repetitive behaviors.
… now affect 1 in every 150 children in the United States. Statistics from the U.S. Department of Education and other … 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 …
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 …
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 …