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Toward an elucidation of the molecular genetics of inherited retinal degenerations

Journal

HUMAN MOLECULAR GENETICS
Volume 26, Issue R1, Pages R2-R11

Publisher

OXFORD UNIV PRESS
DOI: 10.1093/hmg/ddx185

Keywords

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Funding

  1. Fighting Blindness Ireland (FB Irl)
  2. Health Research Board of Ireland [HRA_POR-2013-376, HRA_POR-2015-1140]
  3. Medical Research Charities Group [MRCG-2012-4, MRCG-2013-8, MRCG-2016-14]
  4. Irish Research Council (IRC)
  5. Science Foundation Ireland [SFI 11/PI/1080]
  6. European Research Council [ERC-2012-AdG 322656-Oculus]
  7. Health Research Board (HRB) [HRA-POR-2015-1140, MRCG-2012-4, HRA-POR-2013-376] Funding Source: Health Research Board (HRB)

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While individually classed as rare diseases, hereditary retinal degenerations (IRDs) are the major cause of registered visual handicap in the developed world. Given their hereditary nature, some degree of intergenic heterogeneity was expected, with genes segregating in autosomal dominant, recessive, X-linked recessive, and more rarely in digenic or mitochondrial modes. Today, it is recognized that IRDs, as a group, represent one of the most genetically diverse of hereditary conditions - at least 260 genes having been implicated, with 70 genes identified in the most common IRD, retinitis pigmentosa (RP). However, targeted sequencing studies of exons from known IRD genes have resulted in the identification of candidate mutations in only approximately 60% of IRD cases. Given recent advances in the development of gene-based medicines, characterization of IRD patient cohorts for known IRD genes and elucidation of the molecular pathologies of disease in those remaining unresolved cases has become an endeavor of the highest priority. Here, we provide an outline of progress in this area.

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