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SUMMARY:Interpreting variants in the genomic era and utility of IPSC deriv
 ed retinal cells and optic cups to explore mechanisms of disease and poten
 tial therapies for retinal degenerations - Prof Alison Hardcastle\,  Insti
 tute of Ophthalmology\, UCL
DTSTART:20161026T150000Z
DTEND:20161026T160000Z
UID:TALK66810@talks.cam.ac.uk
CONTACT:Fiona Roby
DESCRIPTION:Retinal degenerations exemplify the genome-wide heterogeneity 
 and challenges we face in assessment of variants of unknown significance. 
 Challenging aspects of interpreting exome and genome variants as potential
 ly pathogenic have unexpectedly revealed aberrant splicing as a common mec
 hanism of disease\, and here I will describe deep intronic mutations leadi
 ng to the introduction of cryptic exons and the discovery of rare haplotyp
 es of the L and M opsin genes\, as a significant cause of disease. The abi
 lity to reprogramme human cells into induced pluripotent stem cells (iPSC)
  and then differentiate them into a wide range of different cell types has
  revolutionised our ability to study human disease. I will discuss how we 
 can use iPSC derived from retinal degeneration patients to study the mecha
 nisms of disease and to test potential therapies. Differentiating iPSC to 
 retinal pigment epithelium (RPE) and optic cups can reveal potential mecha
 nisms for retinal specificity\, revealing why retinal cells are more susce
 ptible to disease than other cells that express the same mutated genes.  F
 urthermore\, iPSC derived retinal cells are ideal for testing gene and mut
 ation specific therapies. 
LOCATION:Lecture Theatre 2\, Department of Veterinary Medicine
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