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February 18th, 2017: “EURETINA-Brief”© Issue No. 148

by Dr. Gearóid Tuohy


Dear EURETINA Members,


A very warm welcome to the February 18th, 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 a new study reporting on a genome wide mRNA screen which suggests a potential link between alternative splice forms of the TUBD1 gene, and a risk for developing diabetic retinopathy (DR); an announcement of the first patient recruited to a Phase IIa trial to evaluate emixustat hydrochloride in subjects with macular atrophy secondary to Stargardt disease, and; receipt of FDA Orphan Drug Designation by GenSight Biologics S.A. (Euronext: SIGHT), a French biotech company, for their experimental retinitis pigmentosa (RP) treatment, “GS030”. According to the company, GS030, is an optogenetic therapy delivered using adeno-associated viral (AAV) vectors to introduce the genetic sequence of a photosensitive protein into the nucleus of target cells. Once expressed, target cells should be able to function in a similar manner to photoreceptor cells enabling the restoration of vision in RP patients.


Finally, our feature bio-ophthalmology article reports on the recent genomics success in uncovering 52 independently associated common and rare variants for wet and dry age-related macular degeneration (AMD) distributed across 34 loci. The research, conducted by the International AMD Genomics Consortium (IAMDGC), reports an almost doubling in the number of genetic risk loci associated with AMD. In the significant research paper published in the journal Nature Genetics, the consortium details an analysis of >12 million gene variants, “including 163,714 directly genotyped, mostly rare, protein-altering variants”. The study, which included 16,144 patients and 17,832 controls, resulted in the identification of independently associated common and rare variants (P < 5X10^−8). In addition, the consortium claims to have identified the first genetic association specific to wet AMD, a locus close to the matrix metalloproteinase gene, MMP9, (difference P value = 4.1X 10^−10).


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.


Best wishes,

Dr. Gearóid Tuohy, EURETINA