Interpreting variants in the genomic era and utility of IPSC derived retinal cells and optic cups to explore mechanisms of disease and potential therapies for retinal degenerations

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• Prof Alison Hardcastle, Institute of Ophthalmology, UCL
• Wednesday 26 October 2016, 16:00-17:00
• Lecture Theatre 2, Department of Veterinary Medicine.

If you have a question about this talk, please contact Fiona Roby.

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 potentially pathogenic have unexpectedly revealed aberrant splicing as a common mechanism of disease, and here I will describe deep intronic mutations leading to the introduction of cryptic exons and the discovery of rare haplotypes of the L and M opsin genes, as a significant cause of disease. The ability 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 mechanisms of disease and to test potential therapies. Differentiating iPSC to retinal pigment epithelium (RPE) and optic cups can reveal potential mechanisms for retinal specificity, revealing why retinal cells are more susceptible to disease than other cells that express the same mutated genes. Furthermore, iPSC derived retinal cells are ideal for testing gene and mutation specific therapies.

This talk is part of the Departmental Seminar Programme, Department of Veterinary Medicine series.

This talk is included in these lists:

• All Talks (aka the CURE list)
• Cambridge Immunology
• Cambridge Infectious Disease
• Cambridge Infectious Diseases
• Departmental Seminar Programme, Department of Veterinary Medicine
• Lecture Theatre 2, Department of Veterinary Medicine
• Vet School Seminars

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