ISGEDR Executive Committee Officers
After his medical studies and residency in Lausanne, Francis Munier obtained board certification in both Ophthalmology and Medical Genetics. From 1991 to 1993, he received additional training as a research fellow in molecular genetics in the Laboratory of Teddy Fung, and as a clinical research fellow in Pediatric Ophthalmology & Ocular Oncology at Children’s Hospital Los Angeles under the guidance of A. Linn Murphree. Back in Switzerland, he joined the Lausanne Retinoblastoma Clinic at Jules-Gonin Eye Hospital and created the first Swiss Unit of Oculogenetics, furthering Franceschetti’s legacy and capitalizing on the study of large Swiss pedigree segregating corneal dystrophies, congenital cataracts, retinal dystrophies and syndromic conditions for gene identification purpose.
In parallel, the management of retinoblastoma patients remained a major focus of his clinical activity. Over the past decade, his team accomplished significant landmark advances in the field of targeted chemotherapy for retinoblastoma, pushing the frontiers of its conservative management, which along with intra-arterial chemotherapy, contributed to the eradication of external beam irradiation and to significantly decrease the need for systemic chemotherapy.
In 2015, he was appointed Full Professor and Head of Ocular Oncology, Pathology and Genetics at Jules-Gonin Eye Hospital. Today the Lausanne Retinoblastoma Clinic has grown to become a tertiary reference center, with some 60 new patients a year originating from all over the world with 66 nationalities represented.
He has authored more than 250 peer-reviewed papers and 30 book chapters (WS h-index = 48). His 2019 paper “Conservative management of retinoblastoma: challenging orthodoxy without compromising the state of metastatic grace”, published in Progress in Retinal and Eye Research, is one of the major references on this topic. He has given more than 230 invited lectures around the world, including 6 named Lectures.
He has regularly attended ISGEDR meetings since Amsterdam 1986 enjoying both genetic and retinoblastoma programs. In 2011 he joined the ISGEDR Executive Committee as a member-at-large. He also served as Honorary Secretary of the International Society of Ocular Oncology (ISOO) from 2017 to 2019 and Co-Chair of the European Retinoblastoma Group from 2014-2020 (EURBG), as well as Vice-President (until 2018) and co-founder of the Société de Génétique Ophtalmologique Francophone (SGOF), supporting the effort to bring together specialists in the two fields of Oculogenetics and Ocular Oncology.
Immediate Past President
Prof. Lorenz was founding president of the European Paediatric Ophthalmological Society (EPOS), until 2010. She is founding leader of the section on Genetics of the German Ophthalmological Society (DOG). SheServes on the scientific advisory board of Pro Retina Germany. In 2011, she was elected member-at-large of the International Society of Genetic Eye Disease and Retinoblastoma ISGEDR.
Prof. Lorenz has edited 3 books and has published more than 280 peer-reviewed papers. Her research interests and research activities include genotyping and genotype-phenotype correlation of genetic eye diseases; gene therapy of hereditary retinal disorders; electrophysiology, psychophysics and imaging of hereditary eye diseases; wide-field-digital imaging and telemedicine for detection and quantification of acute retinopathy of prematurity, paediatric neuroophthalmology, pathophysiology of strabismus disorders, and pathophysiology of congenital and juvenile cataracts.
Arlene V Drack
Member At Large –
Iowa City, USA
Arlene Drack, MD, has been active in ISGEDR since attending her first meeting while she was a fellow with Irene Maumenee, MD. She is currently a clinician-scientist pediatric ophthalmologist at the University of Iowa. Dr. Drack holds weekly genetic eye disorders clinics, and also runs a basic science lab using mouse models of human retinal degenerations to work on developing new treatments. She is the director of the Electrophysiology service in the Department of Ophthalmology and Visual Sciences, and utilizes rodent and pig electroretinography in her research.
For 15 years Dr. Drack did primarily clinical research and medical/surgical patient care at Emory University and The Children’s Hospital, Denver. In 2008 she was recruited back to the University of Iowa to start a pediatric genetic eye disease service and to be a co-investigator in the Phase III human gene therapy trial for RPE65-associated Leber congenital amaurosis. This trial, which resulted in the first FDA approved ocular gene therapy, Luxturna®, is proof of concept that “untreatable” causes of childhood blindness are treatable. Dr. Drack is currently an investigator on the ProQr funded CEP290LCA AON treatment trial, the Luxturna® follow on study and the Luxturna® post-marketing study. She also runs an active program in treating mouse models of retinal degeneration in the University of Iowa Institute for Vision Research. This work led to the novel discovery of overexpression toxicity with Bardet Biedl Syndrome type 1 subretinal gene therapy, and recently, the promising efficacy of subretinal gene therapy in mouse models of Juvenile X-linked Retinoschisis and BBS10. She collaborates with Sanford School of Medicine at the University of South Dakota on ocular phenotyping of the pig model of Batten Disease.
Arif O. Khan
Member At Large –
Abu Dhabi, UAE
Arif O. Khan, MD, is a USA-born and trained pediatric ophthalmologist who has been practicing in the Arabian Gulf region since 2002 – first in Riyadh, Saudi Arabia (King Khaled Eye Specialist Hospital, 2002-2015) and subsequently in the Abu Dhabi, United Arab Emirates (Cleveland Clinic Abu Dhabi, 2016-present). Dr. Khan is currently Consultant in Pediatric Ophthalmology & Strabismus and in Ocular Genetics at the Eye Institute, Cleveland Clinic Abu Dhabi, UAE, where he is also responsible for the Ocular Electrophysiology Service. Dr. Khan’s academic appointment is Professor of Ophthalmology at Cleveland Clinic Lerner College of Medicine of Case Western University in Cleveland, Ohio, USA.
In 2002 Dr. Khan was recruited to Riyadh from private practice in New York. In Riyadh he developed an interest and experience in genetic eye disease. In addition to clinical and surgical care, his pediatric ophthalmology clinical practice soon evolved to include a referral Ocular Genetics Service. Dr. Khan was fortunate to be able to work with and learn from several molecular geneticists. Their team was able to characterize novel phenotypes, genotypes, and phenotype-genotype correlations, particularly in children. Some of the conditions defined phenotypically and genetically include cornea plana, newborn glaucoma, central pulverulent cataract, Knobloch syndrome, the enhanced S-cone syndrome, and cone dystrophy with supranormal rod response. Some of the conditions for which novel genes were uncovered include retinal dystrophy, ectopia lentis, and congenital cranial dysinnervation disorder.
In 2016 Dr. Khan moved to Abu Dhabi to establish a regional Ocular Genetics Service and an Ocular Electrophysiology Service. This led to Abu Dhabi becoming a certified center for administering gene therapy for RPE65-related retinal dystrophy in the Gulf region.
Elias I Traboulsi
Executive Vice President
Dr. Elias I. Traboulsi is the Head of the Department of Pediatric Ophthalmology and the Director of the Center for Genetic Eye Diseases at The Cleveland Clinic Cole Eye Institute. He is Professor of Ophthalmology at the Cleveland Clinic Lerner College of Medicine of Case Western University and Director of the Ophthalmology Residency Program at the Cleveland Clinic Foundation.
He also serves as Vice-Chairman for Education at the Cole Eye Institute and Chairman of the Department of Graduate Medical Education at the Cleveland Clinic. He is Past President of The International Society for Genetic Eye Diseases and Retinoblastoma and its current executive vice-president. He has been the Editor-In-Chief of Ophthalmic Genetics sine 1992. He has served on the editorial boards of the American Journal of Ophthalmology and the Journal of AAPOS. He currently serves on the boards of the Canadian Journal of Ophthalmology, the British Journal of Ophthalmology and the MEAJO. He has authored more than 400 scientific articles and book chapters. His book on “Genetic Diseases of the Eye” published by Oxford Univeristy Press in 1999 is one of the major references on this topic and its second edition was published in October 2011.
He has given 20 named Lectures and has visited and taught at numerous academic institutions around the world. He recently received the “Mater Educator” award at the Cleveland Clinic. Dr. Traboulsi’s clinical and research interests include the management and genetics of strabismus and congenital cataracts, and the nosology of ophthalmic and general medical genetic disorders and syndromes. He has special interest in ocular developmental biology and ocular malformations, retinal dystrophies, and connective tissue disorders, especially Marfan syndrome.
Meghan J DeBenedictis
Genetic Counselor Board Member
Ms. 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. While working primarily in research, she partnered with Dr. Elias Traboulsi to provide clinical genetic counseling services in a retinal dystrophy clinic. Over the years, she has grown her own clinical practice providing clinical ophthalmic genetic counseling and testing for patients with inherited eye diseases. She is also an integral team member of the Cleveland Clinic Center for Personalized Genomics Healthcare. 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 attended her first ISGEDR meeting in 2013, and has lead in organizing the genetic counselors’ break-out sessions during the conference. She has taken initiative to organize CEU credits for genetic counselors who attend both ISGEDR and Ophthalmic Genetics Study Club. In 2019 she worked in effort to obtain 2 grants to provide funding for genetic counselors to attend the meeting in San Francisco.
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. She has had incredible learning opportunities to serve as a consultant or board member for organizations including the Foundation Fighting Blindness, Spark Therapeutics, and Second Sight Medical Products. As a genetic counselor, she has been able to provide a unique perspective into the diagnosis and treatment for patients with inherited eye diseases.
Alex V. Levin, M.D., MHSc, FRCSC
Member at Large
Children’s Hospital of Philadelphia, USA
Following completion of a pediatric residency at the Children’s Hospital of Philadelphia, Dr. Levin was a child abuse pediatrician. He then completed an ophthalmology residency at Wills Eye Hospital in Philadelphia, followed by a pediatric ophthalmology fellowship at The Hospital for Sick Children in Toronto where he returned to become Professor in the Departments of Pediatrics, Genetics and Ophthalmology and Vision Sciences at the University of Toronto while working as a staff ophthalmologist at The Hospital for Sick Children for over 16 years. There he started the Ocular Genetics Program in 1995 with Dr. Brenda Gallie. In 2008 he returned to Wills as the Chief of Pediatric Ophthalmology and Ocular Genetics and Professor at the Sidney Kimmel Medical College of Thomas Jefferson University. There he established a new Ocular Genetics program and co-authored The Wills Eye Handbook of Ocular Genetics. His next career move will soon take him to Rochester, New York as Chief of Pediatric Ophthalmology and Ocular Genetics at the Flaum Eye Institute and Chief of Pediatric Genetics at Galisano Children’s Hospital. He serves on the Executive Committee of the International Society of Genetic Eye Disease and Retinoblastoma (ISGEDR) and is a frequent lecturer and contributor to the medical literature on topics related to ocular genetics.
ISGEDR is most grateful for the services rendered over many years and for the leadership of the Board members who are stepping down after serving their terms – Dr. Brenda Gallie from Toronto, Canada and Dr. Richard Weleber from Portland, USA. Professor David Mackey from Perth, Australia will be replaced on the Board by Dr. Birgit Lorenz for the position of immediate past-president.