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On the genetics of retinitis pigmentosa and on mutation‐independent approaches to therapeutic intervention
Author(s) -
Farrar G. Jane,
Kenna Paul F.,
Humphries Peter
Publication year - 2002
Publication title -
the embo journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 7.484
H-Index - 392
eISSN - 1460-2075
pISSN - 0261-4189
DOI - 10.1093/emboj/21.5.857
Subject(s) - retinitis pigmentosa , biology , genetic heterogeneity , mutation , genetics , intervention (counseling) , molecular genetics , bioinformatics , gene , phenotype , medicine , psychiatry
Retinitis pigmentosa (RP), the group of hereditary conditions involving death of retinal photoreceptors, represents the most prevalent cause of visual handicap among working populations in developed countries. Here we provide an overview of the molecular pathologies associated with such disorders, from which it becomes clearly apparent that RP is one of the most genetically heterogeneous of hereditary conditions for which molecular pathologies have so far been elucidated. While heterogeneity of such magnitude would appear to represent a major impediment to the development of therapeutics, mutation‐independent approaches to therapy are being developed to effectively by‐pass such diversity in genetic aetiology. The implications of such technologies in terms of therapeutic intervention in RP, and indeed other genetically heterogeneous conditions, will be addressed.