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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
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 …
Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… believe that DS results from a disturbance - either by genetic or environmental factors - during embryonic … of simplex Duane retraction syndrome. … Most likely, both genetic and environmental factors play a role in the … (DS). For those cases that show evidence of having a genetic cause, both dominant and recessive forms of DS have …
Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
… a specific abnormality in the heme production process. … Genetic Disorders …
Genetic Disorders
Methylmalonic acidemia is a group of inherited disorders in which the body is unable to process certain proteins and fats (lipids) properly.
… body. Vitamin B12 deficiency states that are not due to genetic causes, such as vitamin B12 deficiency, can also … of methylmalonic acidemia or cobalamin disorders visit a genetic counselor or physician who specializes in genetics … to process certain proteins and fats (lipids) properly. … Genetic Disorders …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… a cleft palate. … Velocardiofacial syndrome (VCFS) is a genetic condition that is sometimes hereditary. VCFS is … that all parents of a child with a 22q11.2 deletion seek genetic counseling before or during a subsequent pregnancy to … the most common syndrome associated with a cleft palate. … Genetic Disorders …