Elucidating the Missing Heritability of Inherited Retinal Disease: Novel Genes, Non-coding Variants and Hypomorphic Alleles
|Starts:||11:00 16 May 2019|
|Ends:||12:00 16 May 2019|
|What is it:||Seminar|
|Organiser:||Faculty of Biology, Medicine and Health|
|Who is it for:||University staff, Current University students|
|Speaker:||Dr Gavin Arno|
Dr Gavin Arno from UCL will be giving a talk entitled 'Elucidating the Missing Heritability of Inherited Retinal Disease: Novel Genes, Non-coding Variants and Hypomorphic Alleles' from 3:00p.m. - 4:00p.m. in the Michael Smith Building.
Inherited Retinal Disease (IRD) is a highly heterogeneous group of genetic disorders, which together represent a leading cause of blindness worldwide. To date, over 300 genes have been associated with IRD, with vast phenotypic, genetic and allelic heterogeneity and representing a broad spectrum of biological pathways.
Accurate molecular diagnosis is important for patients and families to obtain the best possible clinical care and to access emerging therapeutic trials. Current genetic testing in the UK for IRD fails to provide a molecular diagnosis in up to 40% of IRD patients suggesting that many causes of disease are as yet undiscovered and there is clearly still much to learn about the genetics of IRD.
The UK genomic revolution and the availability of affordable whole genome sequencing (WGS) now enables characterisation of the variant landscape across greater than 95% of the genome including interrogation of genes not yet associated with Mendelian disease, non-coding regions of all genes and structural variants. At Moorfields Eye Hospital and UCL Institute of Ophthalmology we have performed WGS on over 2,000 probands and families with IRD as part of the NIHR BioResource – Rare disease study and the Genomics England 100,000 genomes project. In this seminar, I will summarise the findings to date of these studies with example cases of newly identified causes of disease in the patient cohort.
Dr Gavin Arno
Role: Fight for Sight Early Career Investigator
Organisation: UCL Institute of Ophthalmology
Travel and Contact Information
Michael Smith Lecture Theatre
Michael Smith Building
Off Dover Street