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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
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
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… 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 … child with thalassemia. A new technique, pre-implantation genetic diagnosis (PGD), used in conjunction with in vitro …
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 …
Genetic Disorders
Holoprosencephaly is a disorder caused by the failure of the the embryonic forebrain to sufficiently divide into the double lobes of the cerebral hemispheres.
… families. There are a number of causes of HPE, including genetic alterations and environmental effects. The cause of … into the double lobes of the cerebral hemispheres. … Genetic Disorders …