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Janey L Wiggs; Monogenic Eye Disease. Invest. Ophthalmol. Vis. Sci. 201657(12):.
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© 2017 Association for Research in Vision and Ophthalmology.
Presentation Description :
Next-generation sequencing (whole-exome and whole-genome) has greatly accelerated the pace of gene discovery for inherited eye diseases. There are now hundreds of genes known to cause Mendelian ocular disorders including important genes for inherited retinal degenerations (IRDs), childhood glaucoma, primary optic atrophy, corneal dystrophies, early-onset cataract and cranial dysinnervation (strabismus). This research has provided important insights into disease mechanisms and has also made possible the development of gene-based diagnostic tests and genetic therapies. While these discoveries are critical steps toward adopting a precision medicine approach for inherited ocular disorders, important challenges remain, including finding the genes that are rarer causes of disease, which will require data-sharing and collaborations; understanding the functional effects of disease-causing mutations, and developing effective therapies for rare diseases which may not be testable in clinical trials.
This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.
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