Retinal Physician

JAN-FEB 2017

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R E T I N A L P H Y S I C I A N | O C T O B E R 2 0 1 6 11 SUBSPECIALTY NEWS n Spark erapeutics (Philadelphia), which develops gene therapies to treat retinal and other diseases, will provide physicians and eligible patients access to genetic testing and counseling for more than 30 genes linked to certain forms of inherited retinal diseases (IRDs), a group of eye conditions believed to affect more than 100,000 people in the United States. e ID YOUR IRD initiative was formally unveiled at the American Academy of Ophthalmology (AAO) 2016 annual meeting in Chicago. Spark has already completed a successful phase 3 trial for gene therapy in treating IRDs and is on course to have the first-ever FDA- approved gene therapy for any medical condition. "A confirmed genetic diagnosis is a critical gateway for patients with inherited retinal diseases and this ini- tiative will help patients, caregivers, and the medical community better understand their disease," said Mark Pennesi, MD, PhD, associate profes- sor of ophthalmology in the OHSU School of Medicine, OHSU Casey Eye Institute. "Genetic testing may provide valuable insight into the underlying cause of vision impair- ment and enable patients to connect to others living with the same condi- tion. With the identification of new genes and the growing focus on gene therapy research, our understanding of IRDs is changing rapidly. People with IRDs are encouraged to seek testing even if they have previously been tested for a genetic disease." e initiative was developed in response to feedback from advocates, families affected by IRDs, and health- care professionals about the current barriers preventing access to genetic screening for IRDs in a consistent, streamlined manner. Spark erapeutics is working with physicians across the country who will be equipped to facilitate IRD genetic testing for eligible patients. Eligibility will be determined by the patient's physician. Participating physicians will send test samples to an independent lab, which will process the sample and deliver test results that may confirm the specific genetic mutation causing the IRD. is information may help determine the best course of action for the patient. Eligible patients will receive the genetic test offered by ID YOUR IRD free of charge, subject to the initiative's terms and conditions. e initiative also offers optional access to independent genetic coun- selors at no cost to eligible patient participants. It is estimated that more than two million people live with IRDs glob- ally, but only a small percentage of them have been genetically screened due to limited access to information about genetic testing. People who have an IRD or their family members may initiate the pro- cess of determining eligibility by talk- ing with their healthcare professional about the program or by visiting www. e site includes a brief patient screener, complete initiative terms and conditions, and other resources. Spark is Offering Free Genetic Testing Screening is for inherited retinal diseases. 11 R E T I N A L P H Y S I C I A N . C O M | J A N U A R Y / F E B R U A R Y 2 0 1 7 IN BRIEF n Allergan founders fund advanced retina research Allergan founder Gavin Herbert and his wife, Ninetta, have pledged $5 million to advance retinal research at UC Irvine Health's Gavin Herbert Eye Institute, the academic eye care center named in his honor. "As longtime champions of the Gavin Herbert Eye Institute, the Herberts have shown that commu- nity leaders can have an indelible impact on academic medicine and the future of health care," said Michael J. Stamos, MD, interim dean of the UC Irvine School of Medicine. n Rxi studies RNAi drug for retinal scarring About a dozen years ago, RNA interference (RNAi) was thought to be "the next big thing" in the advancement of therapies for retinal diseases. However, when companies like Sirna and Acuity failed to produce the hoped-for results, the RNAi con- cept lost some of its luster. However, Rxi Pharmaceuticals (Marlborough, MA) is now conducting a small, phase 1/2 trial using intravit- real injections of its RNAi drug to com- bat retinal scarring in patients with advanced wet AMD. The company's compound, RXI-109, is designed to reduce the expression of connective tissue growth factor (CTGF), a critical agent of scar formation in the eye. Craig Mello, PhD, who chairs the company's scientific advisory board, is a Nobel Prize winner for his work with RNA interference.

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