n South African Medical Journal - The value of genetic testing for inherited retinal disease caused by mutations in the ABCA4 gene in South Africans : correspondence
|Article Title||The value of genetic testing for inherited retinal disease caused by mutations in the ABCA4 gene in South Africans : correspondence|
|© Publisher:||Health and Medical Publishing Group (HMPG)|
|Journal||South African Medical Journal|
|Affiliations||1 University of Cape Town, 2 University of Cape Town, 3 University of Cape Town, 4 University of Cape Town and 5 University of Cape Town|
|Publication Date||Oct 2013|
|Pages||702 - 703|
Gene-based therapies for inherited retinal degenerative diseases (RDDs) have gained momentum in the past 5 years, and there are currently several early-stage clinical trials underway that have the potential to intervene in disease processes and provide clinical benefit to patients. However, knowledge of a patient's specific underlying genetic mutation(s) is a prerequisite for participation in these trials. Identification of the mutations in patients with RDDs is challenging and costly; there are more than 200 genes associated with RDDs, and each can carry hundreds of potential mutations. Finding the one or two mutations responsible for the RDD in a patient is daunting, so the best candidate gene to screen is often determined by the clinical manifestations of the disease and the inheritance pattern observed.
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