Foundation Fighting Blindness and Blueprint Genetics Announce Collaboration to Support Genetic Testing and Patient Registry Process for IRD Patients

(Columbia, Maryland) – The Foundation Fighting Blindness (FFB), the world’s leading private funder of research for cures for inherited retinal diseases and Blueprint Genetics today announced a collaborative research study to  grow the data in a Foundation-supported patient registry for inherited retinal diseases (IRDs), called “My Retina Tracker”, and, in doing so, advance the clinical trials process.

My Retina Tracker is an international registry for individuals and families affected by inherited retinal diseases. It is an electronic registry designed for ease of use and to protect patient confidentially.  IRD-affected individuals or their family members can create a secure registry profile at My Retina Tracker is designed to share de-identified data to help researchers understand more about these rare diseases, from the patient perspective, and to provide a one-stop site that assists clinicians seeking to identify eligible patients for clinical studies and trials.  The registry is patient-driven, giving patients total control over all data they share.

The FFB-Blueprint research study will assess the value of adding genetic testing data to the profile of participants in the registry.  Clinicians participating in the study will enroll up to 100 eligible existing participants of My Retina Tracker.  Following genetic counseling, Blueprint Genetics, a CLIA certified diagnostic testing company accredited by the College of American Pathologists with ISO 15189 accreditation, will apply their comprehensive Retinal Dystrophy PLUS Panel to the participants’ DNA.  The panel includes a 181-retinal dystrophy gene panel and gene deletion-duplication testing.  The test results will be included in the participants’ registry profile.

“With the rapidly growing pipeline of potential therapies for IRDs approaching the clinic, it is important we understand how to make our registry as valuable as possible for affected people, researchers and clinicians,” said Brian Mansfield, PhD, FFB’s deputy chief research officer. 

“Many of today’s emerging therapies are gene and even mutation specific. That makes understanding the genetic basis and diversity of each of the inherited retinal diseases increasingly important,” Mansfield said.

“We hope this pilot project will guide us in enhancing the data value of the registry.   It will help determine if, when one of the assumed major barriers to genetic testing – cost, is removed and patients gain confidence in the process because their physician recommends it, will participation increase?  More participation means more data.  More data will advance our pathways to cures by supporting the clinical trials process,” Mansfield said.

“Being in a registry will increase patient access to clinical trials, no matter where they live.  And, robust registries will make specific target patients more accessible to a research team.  That’s a win-win for the patient, the research team – in fact, for the whole IRD community,” said Patricia Zilliox, PhD, chief drug development officer of FFB’s Clinical Research Institute.

“Blueprint Genetics is pleased to be partnered with the Foundation Fighting Blindness as they work to further the understanding of inherited retinal diseases.  We view the appropriate use of genetic testing as an integral part of identifying and guiding treatment strategies for patients with IRD now and as more gene specific therapies emerge,” said Brandt Charters, vice president of sales, Blueprint Genetics

“Since 2012 Blueprint Genetics has been developing technological innovations in sequencing and clinical interpretation to improve the quality and performance of rare disease diagnostics. It is great to see how these innovations are now helping the ophthalmology community and patients suffering from inherited retina disorders,” said Tero-Pekka Alstalo MD, PhD; chief medical officer, Blueprint Genetics.

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The Foundation Fighting Blindness was established in 1971. It has since raised more than $700 million for research aimed at preventing, treating and curing blindness caused by retinal degenerative diseases. In excess of 10 million Americans, and millions more worldwide, experience vision loss due to retinal degeneration. Through its support of focused and innovative science, the Foundation drives the research that has and will continue to provide treatments and cures for people affected by retinitis pigmentosa, macular degeneration, Usher syndrome and other inherited retinal diseases.

Blueprint Genetics is a genetic diagnostic laboratory that has developed innovative technologies for DNA sequencing and clinical interpretation in human rare diseases. Our technologies enable improved quality and performance with lower cost and faster lead time. We offer full transparency to our technology, quality and performance, and analytic validations of our technologies. Our expert team of geneticists and clinicians together with our IBM Watson powered CLINT technology provide top quality clinical interpretation and reports. We provide solutions that are changing the standards of molecular diagnostics.

Original Date: 
Tuesday, March 21, 2017