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- Developmental Genotype-Tissue Expression (dGTEx)1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
… progeria is caused by a tiny, point mutation in a single gene, known as lamin A ( LMNA ). Parents and siblings of … approximately 25,000 DNA base pairs that make up the LMNA gene. The LMNA gene codes for two proteins, lamin A and lamin C, that are …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… performed in a research laboratory or using specific gene studies to look for mutations in the genes known to be …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… person needs to inherit two altered (mutated) copies of a gene - one from each parent - to develop the disease. The … with Wilson disease each carry one mutated copy of the gene and one normal copy of the gene, so they do not show signs or symptoms of the disease. …
Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… of Turner syndrome. They have, however, identified one gene called SHOX that is important for bone development and growth. Missing one copy of this gene likely causes short stature and skeletal abnormalities …
Genetic Disorders
Prostate cancer is a disease where certain cells in the prostate become abnormal and multiply to form a tumor.
… have a role in inherited risk for prostate cancer. Certain gene changes (mutations) have been found to increase the risk …
Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
… Some forms of porphyria result from inheriting one altered gene from one parent (autosomal dominant). Other forms result …
Genetic Disorders
Skin cancer is the most common type of cancer in the United States.
… disease. Research suggests that a mutation in the CDKN2 gene on chromosome 9 plays a role in this form of melanoma. …
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… no clear inheritance pattern has been identified and no gene has been found to be the sole cause of this condition. … fitted best by either a dominant (one copy of the altered gene inherited from one parent causes the condition) or …
Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
… (this means that one out of a person's two copies of the gene, inherited from one parent, is altered). However, most …
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.