by Dr. Gearóid Tuohy
Dear EURETINA Members,
A very warm welcome to the November 17th, 2017 edition of EURETINA’s web-based digital magazine, “EURETINA Brief”. EURETINA are delighted to continue our delivery of up-to-date summary briefs on a range of topics of interest to retinal clinicians, specialists and researchers across Europe. This resource is designed to accommodate the very busy schedules of all our members by providing them with a short overview of some new developments and announcements in our field over recent weeks.
As in previous issues we have incorporated a feedback section where you can comment on any of the news items or articles under discussion and we very much welcome all contributions. Previous articles and issues can be found in the archive section on this website.
The current issue highlights a number of research activities, clinical/regulatory milestones and business developments in our field, including the publication of encouraging Spanish research suggesting that gene editing may provide a potential treatment for Usher’s syndrome; the reporting of clinical trial results on a new geographic atrophy drug for AMD focused on the complement activation system and; news on the gene therapy front where US analysts are expecting a price tag of up to $1 million per treatment for a new drug, “Luxturna”, designed to treat the inherited disorder Leber’s congenital amaurosis.
Finally, our feature bio-ophthalmology article reports on the recent genomics success by investigators based at the Department of Genetics & Microbiology, University of Barcelona, Spain, who have shown that whole exome sequencing (WES) continues to provide efficient returns in the identification of the genetic diagnosis for a range of inherited retinal disorders. The Spanish research group worked on a cohort of 33 families with a variety of retinal disorders and used WES to define a genetic diagnosis in 18 families while proposing a viable candidate gene in a further 10 cases. Two thirds of the mutations identified were described as novel and included 4 chromosomal rearrangements. In addition, the results obtained prompted a clinical re-evaluation of some patients resulting in a change of diagnosis from a non-syndromic inherited retinal degeneration to a syndromic diagnosis. Four new candidate genes for non-syndromic pathologies were also identified including SEMA6B, CEP78, CEP250 and SCLT1.
As always, increased interaction by you with the EURETINA web community serves to expand your professional network and keep you up to date with the latest initiatives, activities and research in your field. Our hope is that such cross-fertilisation in an active web-based platform, including our LinkedIn page, will lead to increased collaborative opportunities and ultimately to improved patient care. All readers are invited to submit comments or responses to any of the stories featured and we look forward to hearing from you over the coming month.
Dr. Gearóid Tuohy, EURETINA