The Curing Retinal Blindness Foundation is extremely grateful to the below talented individuals for donating their time, wisdom, and knowledge to help guide our board in the funding of research for degenerative retinal diseases.

Dan Chung, DO, MA

1Global Therapeutic Area Leader-OphthalmologySpark TherapeuticsDr. Chung is the Global Therapeutic Area Leader-Ophthalmology for Spark Therapeutics and the company’s inherited retinal disease and ophthalmology expert and resource. He also served as Spark’s Medical Affair Ophthalmic Lead and the Clinical Development Ophthalmic Lead. Prior to joining Spark Therapeutics, he was a senior investigator at the FM Kirby Center for Molecular Ophthalmology at the Scheie Eye Institute at the Perelman School of Medicine of the University of Pennsylvania, working in retinal gene therapy and transfer...

Concurrently, he served as the scientific advisor on the RPE65 gene therapy study team at the Children’s Hospital of Philadelphia (CHOP). He was the PI and first author for the RPE65 natural history study and the Multi-luminance Mobility Test (MLMT) validation study. Dr. Chung earned his medical degree from the New York Institute of Technology College of Osteopathic Medicine and completed his residency in Akron, Ohio. He then completed fellowships in pediatric ophthalmology and ocular genetics research at the Cole Eye Institute at the Cleveland Clinic, with additional training in retinal gene therapy at the National Eye Institute/NIH in Bethesda, MD. As the medical strategy lead for ophthalmology, he works in the areas of medical affairs, clinical development and operations, pre-clinical studies, patient advocacy, commercial and marketing and business development.

Meghan DeBenedictis, MS, CGC, MEd

1Ophthalmic Genetic CounselorCleveland ClinicMs. DeBenedictis took a position at the Cleveland Clinic Cole Eye Institute after graduating from the Genetic Counseling Program at Case Western Reserve University in 2011. She started her career in ophthalmic genetics serving as the Rare Eye Donor Program Coordinator for the Foundation Fighting Blindness' Eye Donor Program...

She then began offering clinical genetic counseling services in a retinal dystrophy clinic at the Cole Eye Institute and over the years, she has grown her clinical practice providing clinical ophthalmic genetic counseling and testing for patients with any form of inherited eye disease. She is also an integral team member of the Cleveland Clinic Center for Personalized Genomics Healthcare and is on the program advisory board for the Case Western Reserve University Genetic Counseling Training Program. In 2017, she received her second Master's Degree in Health Professionals Education. Ms. DeBenedictis has served as study coordinator and/or co-Investigator on numerous clinical trials, including the ProgStar studies, Spark Therapeutics' Natural History Study for Choroideremia, and Acucela Inc.'s Phase 2 study for Emixustat in Stargardt disease. Additionally, she was the Argus II Retinal Prosthesis program manager for the Cole Eye Institute, which became the leading Argus implantation center in North America. Ms. DeBenedictis was recently nominated as President-Elect of the Ohio Association of Genetic Counselors, is a member of the National Society of Genetic Counselors (NSGC), and serves as the Education Coordinator for the Ophthalmology and Hearing Loss Special Interest Group through NSGC. She also serves on the Executive Board for the International Society of Genetic Eye Diseases & Retinoblastoma and is on the Editorial Board for the journal, Ophthalmic Genetics. As a genetic counselor, she has been able to provide a unique perspective into the diagnosis and treatment for patients with inherited eye diseases.

Profa Dra Juliana M Ferraz Sallum

1Affiliate professor Ophthalmology Department at UNIFESP. Ophthalmologist, Retina Specialist. Also Board Certified Clinical Geneticist...

Fellowship with Prof Irene Maumenee at Johns Hopkins University, Master and Doctoral Degree Instituto de Genética Ocular in São Paulo, Brazil.

Marius Ueffing, PhD (Dr. rer. nat.)

1Director of the Institute for Ophthalmic Research Co-Chair of the Centre for OphthalmologyUniversity Medical Center in Tuebingen, GermanyMarius Ueffing is the Director of the Institute for Ophthalmic Research and Co-Chair of the Centre for Ophthalmology at the University Medical Center in Tuebingen, one of the largest centers for ophthalmology in Europe. He directs the Medical Proteome Center, a core facility within the medical faculty in Tübingen and acts as a co-director of QBiC: the Quantitative Biology Center of the University of Tuebingen...

Marius has a background in protein science and molecular and medical genetics and has a long-standing history of contributions to medical research. His previous positions included a Research Associate position at Columbia University, College of Physicians and Surgeons, New York, followed by group leader positions in pharmaceutical industry at Goedecke-Parke-Davis and in the Division of Medical Genetics at the University Medical Centre Munich. Before and jointly with his appointment to Tübingen, he was Director of the Independent Research Unit of Protein Science at the National Research Centre for Environment and Health in Munich.
He and his group are focused on uncovering molecular mechanisms of retinal disease identifying disease drivers and biomarkers towards development of new precision medicine diagnostics and therapy based on the mechanistic and holistic understanding of pathomechanisms on a systems level. Between 2015 and 2020 Marius coordinated the EU Horizon2020 Systems Medicine Project EYE-RISK (www.eyerisk.eu) that focuses on AMD.
Marius has a background in protein science and molecular and medical genetics and has a long-standing history of contributions to medical research. His previous positions included a Research Associate position at Columbia University, College of Physicians and Surgeons, New York, followed by group leader positions in pharmaceutical industry at Goedecke-Parke-Davis and in the Division of Medical Genetics at the University Medical Centre Munich. Before and jointly with his appointment to Tübingen, he was Director of the Independent Research Unit of Protein Science at the National Research Centre for Environment and Health in Munich.
He and his group are focused on uncovering molecular mechanisms of retinal disease identifying disease drivers and biomarkers towards development of new precision medicine diagnostics and therapy based on the mechanistic and holistic understanding of pathomechanisms on a systems level. Between 2015 and 2020 Marius coordinated the EU Horizon2020 Systems Medicine Project EYE-RISK (www.eyerisk.eu) that focuses on AMD.

Stephen Tsang, MD, PhD

1Lazlo Z. Bito Associate Professor of Ophthalmology, Pathology and Cell Biology Columbia University Stephen Tsang, MD, PhD, is the László Z. Bitó associate professor in Departments of Ophthalmology, Pathology-Cell Biology and Institute of Human Nutrition at Columbia University. He graduated from Johns Hopkins University, where he began his medical genetics training under the tutelage of Professor Victor A. McKusick...

He received his M.D.- Ph. D. degrees from the NIH-National Institute of General Medical Sciences Medical Scientist Training Program (MSTP) at Columbia University. Dr. Tsang then completed his postdoctoral fellowship at Jules Stein Eye Institute/UCLA under the guidance of Professors Debora Farber, and Bartly Mondino.

He has produced an impressive body of work that spans fundamental basic science and to the biochemical and genetic basis of retinitis pigmentosa (RP) to preclinical trials for gene therapy to treat the disease. A true pioneer in many clinical-physiological dimensions, he made the first gene-targeted model for a recessive form of retinitis pigmentosa (RP) with gene-targeting in embryonic stem cell technology; this model is used in current research by numerous laboratories. The results from his PDE6 projects provided the solid foundation to start a gene therapy trial titled, “Bringing Gene Supplementation Therapy for PDE6-associated Retinopathies into Clinical Practice” to be supported by Tistou and Charlotte Kerstan Foundation. His contributions to RP were recognized by the 2003 Burroughs Wellcome Career Award in Biomedical Science, 2005 Bernard Becker Association of University Professors in Ophthalmology's Research to Prevent Blindness Award; 2013 Dr. Bradley Straatsma lectureship, ARVO Foundation 2006 Alcon, 2011 Genentech and 2013 Pfizer- Carl Camras awards.

In addition to bench research, Dr. Tsang is also a well respected educator and clinician. As a Director of an Ophthalmology-Basic-Science Course, he received rave reviews, and the enrollment doubled since he took over the responsibility of the course director. Among his trainees are Nan-Kai Wang, MD at Chang Gung Memorial Hospital and Werner Cella, MD at Brasília who now run referral centers for retinal degenerations in Taiwan and Brazil, respectively. Dr. Wang has just elected to the Macular Society, an honor society of the world’s top 430 retinal physicians. A highly sought after physician, Dr. Tsang receives numerous referrals, both domestic and international.

Irene Maumenee, MD

1Pediatric Ophthalmology & Adult Strabismus Service Director, Ocular Genetics LaboratoryDr. Irene H. Maumenee has a lifelong interest in genetic eye diseases...

She is a medical school graduate of the University of Goettingen, Germany. She joined the Department of Ophthalmology at the University of Geneva, Switzerland, where she wrote a thesis on X-linked retinitis pigmentosa. From there she moved to the University of Honolulu, Hawaii, where she studied population genetics. As part of her studies, she initiated the long term analysis of achromatopsia on Pingelap, a small island in the Federated States of Micronesia. The studies resulted in identification of the first gene for colorblindness, CNGB3.

She moved to the Department of Medical Genetics at Johns Hopkins University in 1969. The Department had been founded by Dr Victor A McKusick, who had a strong interest in disorders of connective tissue, including the Marfan Syndrome. Her interest in genetic eye diseases made her welcome at the Institution and she stayed the next 40 years. She wrote her AOS thesis on the Marfan Syndrome and continues to work on the group of diseases, which entail dissections of the aorta.

She recently joined the Faculty of the Department of Ophthalmology at Columbia University Medical Center. She will continue her studies in genetic projects at this institution.

Michael E Selzer, MD, PhD, FRCP Director

1Shriners Hospitals Pediatric Research Center Professor, Neurology Temple University School of MedicineDr. Selzer’s research is in the area of regeneration in the central nervous system, using the spinal cord of the sea lamprey as a model for determining the molecular mechanisms that underlie regrowth of axons after injury. Early on, his laboratory demonstrated that spinal cord axons regenerate selectively in their correct paths and make physiologically functioning synapses specifically with correct neuron types. The spinal-projecting neurons in the brainstem are very heterogeneous in their regenerative abilities...

Those that are bad regenerators downregulate neurofilament (NF) mRNA expression permanently after axon section, whereas good regenerators show recovery of NF expression. Since the regenerating axon tips lack filopodia, have sparse F-actin and are densely packed with NFs, the Selzer lab is testing whether NFs are involved in the mechanism of regeneration. They are now using in vivo micro-imaging and two-photon microscopy to distinguish axons that are actively regenerating from those that are static or retracting and observe their responses to pharmacological and molecular manipulations. Using these microimaging techniques, they have found that axon regeneration is intermittent and that increasing cAMP activity increases the velocity of axon regeneration but not the time spent in forward movement, as opposed to stasis or retraction. Another characteristic of bad regenerating neurons is their upregulation of receptors for certain guidance molecules after axotomy. In other systems, these receptors act as “dependence receptors,” activating an apoptosis cascade when they are not bound by their ligand. With Dr. Michael Shifman, Dr. Selzer has found that the ligands for these receptors are down-regulated transiently near the site of spinal cord transection, and that the bad-regenerating neurons undergo delayed apoptotic cell death, i.e., they are TUNEL and caspase 3 positive and eventually disappear. Thus, the lab is now testing whether certain neurons are bad regenerators because at the time of assessment, they are already undergoing very slow dependence receptor-mediated apoptosis.
Dr. Selzer is the recipient of numerous grants and awards from the NIH and other government and voluntary organizations and has served on peer review panels for the NIH, the Department of Veterans Affairs and the National Multiple Sclerosis Society.

Mina Sun, PhD

1Research ScientistUniversity of California, BerkelyMina is a research scientist at University of California, Berkeley...

She holds a PhD from Biophysics at Northwestern University. Besides being a valued member of our Scientific Advisory Board, Mina is also the parent of a child diagnosed with CRB1.

Curt Scribner, MD, MBA

1Senior Vice President of Medical and Regulatory AffairsRRD InternationalDr. Scribner is Senior Vice President of Medical and Regulatory Affairs at RRD International, LLC. Dr. Scribner is a board certified physician in internal medicine and has direct experience running large clinical programs. He joined RRD from Intarcia Therapeutics, where he was the Vice President of Regulatory and Quality Affairs and Chief Regulatory Officer...

Previously, Dr. Scribner was Chief Regulatory Consultant for Quintiles Consulting, where he developed and wrote numerous NDA, BLA, IND, IDE, 510(k), PMA, and MAA applications. Prior to Quintiles Consulting, Dr. Scribner spent 10 years at FDA, where he held a variety of positions and was involved in reviewing products regulated by the Center for Biologics. Dr. Scribner holds an MD from the University of Colorado College of Medicine, an MBA from the University of Maryland College of Business and Management, and a BA in biology from Grinnell College.

Frans Cremers, PhD

1Department of Human GeneticsRadboud University Nijmegen Medical Centre

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