USH2020: Open Access Genetic Testing and Registries

July 8, 2020

Brian Mansfield, PhD

The Foundation Fighting Blindness, Blueprint Genetics, and InformedDNA have partnered to offer free genetic testing and genetic counseling for individuals with a suspected inherited retinal disease (IRD) living in the United States. Vision loss in Usher syndrome is caused by retinitis pigmentosa, which is an inherited retinal disease. Learn more:


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Presentation Summary:

The Foundation Fighting Blindness currently sponsors an Open Access genetic testing program that offers a no-cost comprehensive genetic test for people resident in the US with a clinically diagnosed retinal degenerative disease. The presentation will discuss the importance of genetic testing, how to participate in the Open Access genetic testing program, and the importance of sharing genetic data in secure patient registries to help accelerate the development of treatments and cures for Usher syndrome and other inherited retinal degenerations.

Speaker Bio:

Brian Mansfield, PhD

Dr. Mansfield joined the Foundation in 2011. He is responsible for formulating and implementing the Foundation’s scientific strategy.   The urgent mission of the Foundation is to develop treatments and cures for people affected with inherited retinal diseases.  These represent a spectrum of 20 orphan indications such as retinitis pigmentosa, Stargardt disease and Usher syndrome, as well as genetically driven forms of age-related macular degeneration, that can result in blindness.  

Mansfield works with researchers in academia, small and large industry, and venture capital to accelerate translational research towards human proof of concept studies.  In 2013 he established My Retina Tracker® Registry, an international, online registry for people with an inherited retinal disease.  The registry data, capturing a person’s subjective experience of their disease, coupled to their clinician’s objective perspective is shared widely to facilitate research, clinical trial enrollment, and increased understanding of the prevalence and genetic heterogeneity of the diseases.   Since 2017 the registry has offered a genetic testing program providing affected individuals with a no cost comprehensive gene panel test for the inherited retinal diseases, with over 7,500 people tested to date.  Prior to joining the Foundation, Mansfield was the chief scientist and vice president for research and development for Correlogic Systems Inc., a senior scientist in protein development at Human Genome Sciences Inc., a tenured professor of eukaryotic genetics at Massey University, New Zealand, and a visiting professor at Georgetown University, Washington D.C.   Mansfield received an honors degree in physical chemistry from Canterbury University; a PhD in biochemistry from the University of Otago, New Zealand; and postdoctoral training in molecular genetics at the Johns Hopkins University School of Medicine. For over 25 years Mansfield has also held a position as an adjunct scientist at NICHD, NIH, as a member of the team who developed a gene therapy for glycogen storage disease type Ia that is currently in phase I/II clinical trials.  He has over 85 peer-reviewed publications and holds multiple patents.

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