Sofia Sees Hope is proud to bring our web series “Let’s Chat About …” to the Leber congenital amaurosis and rare inherited retinal disease communities. We've developed the series with those living with LCA and IRDs in mind, but we invite all members of our community, including those in research, industry, and the regulatory communities to join any of the sessions, as we look ahead to a common goal of advancing treatments for rare retinal disease.
MARCH 15, 2021 - 1:00pm ET
Licensed Genetic Counselor and Research Study Coordinator
Massachusetts Eye and Ear
Let’s Chat About … The ins and outs of genetic testing.
Emily graduated from the University of St. Thomas with a Bachelor of Arts in Biology. She went on to earn her master’s degree in Human Genetics from Sarah Lawrence College. Prior to working at the Ocular Genomics Institute, she worked as a pediatric genetic counselor at The Children’s Hospital of Philadelphia.
Emily joined the OGI in 2011, where she provides risk assessment and genetic counseling services to families with inherited retinal dystrophies. She also serves as the study coordinator for the research study of molecular genetics of inherited retinal dystrophies.
APRIL 19, 2021 - 1:00pm ET
Jonathan Stokes, MBA
Director, Patient-Centered Outcomes Research
Let’s Chat About … Why natural history and patient outcome studies are important.
Jonathan has a devoted interest in understanding and bringing to light the patient voice and perspective, with over 16 years of research study design and implementation experience. His experience is primarily in health outcomes research; specifically, the development and evaluation of clinical outcomes of assessment (COAs) for use in clinical trials intended to substantiate product labeling goals, as well as use of COAs in real world clinical practice. Areas of focus include the evaluation of cardinal signs and symptoms of disease, health-related quality of life, improvements and activation in treatment adherence, understanding unmet need, and exploring the burden of disease. Jonathan holds an MBA from Northeastern University
MAY 13, 2021 - 1:00pm ET
Todd A. Durham, MS, PhD
Vice President, Clinical & Outcomes Research
Foundation Fighting Blindness
Let’s Chat About … My Retina Tracker
Todd Durham is the Vice President, Clinical & Outcomes Research at the Foundation Fighting Blindness, a national non-profit that funds research to treat and cure inherited retinal diseases. In his current role, Todd is responsible for directing the Foundation’s Clinical Consortium of retinal experts, developing strategies to enhance product development, partnering with industry, and providing technical input on partnered programs and investment decisions. Todd has over 25 years of drug development experience. Prior to his current position, he contributed to research on numerous marketed products as Director of Biostatistics with IQVIA’s Real World Evidence Solutions, was a doctoral fellow with Bristol Myers Squibb, and worked in various statistical and leadership roles for Novan, Inspire Pharmaceuticals, Quintiles, and as a self-employed consultant. Todd earned a BSPH and MS in biostatistics and a PhD in health policy and management (Decision Science and Outcomes Research) from the UNC Gillings School of Global Public Health.
JULY 13, 2021 - 1:00pm ET
Daniel de Boer
Founder and Chief Executive Officer
Let’s Chat About … ProQR's work in treatments for inherited retinal disease
Daniel de Boer is Founder and Chief Executive Officer of ProQR, which was incorporated in 2012. Daniel is a serial entrepreneur and passionate advocate for rare disease patients. After one of his children was diagnosed with a rare disease, he started ProQR to develop RNA therapies for rare diseases. Under Daniel’s leadership, ProQR developed a platform that yielded a diversified pipeline of potential treatments for rare diseases and raised more than $400M in funding, including an IPO on Nasdaq. Before founding ProQR, Daniel was founder and Chief Executive Officer of several technology companies. Daniel is also co-founder and strategic advisor to Amylon Therapeutics and Wings Therapeutics, strategic advisor at Frame Therapeutics, Meatable, Algramo and a member of the advisory board at the Termeer Foundation. In 2018 Daniel was named "Emerging Entrepreneur of the Year" by EY. In 2019 Daniel was selected for the Young Global Leader program at the World Economic Forum.
Sofia Sees Hope is a 501c(3) nonprofit global patient advocacy organization dedicated to transforming the lives of those affected by blindness caused by rare inherited retinal diseases. Our mission is to generate awareness, raise funds for research, and provide outreach, support and education to those affected by LCA and other rare retinal diseases.
Leber congenital amaurosis (LCA) is a rare inherited retinal disease (IRD) that causes the degeneration of the cone and rod cells in the retina. It is characterized by severe vision loss at birth and results in complete blindness. As a rare disease that is not widely known or understood, LCA can often create feelings of isolation, frustration and helplessness.
All families affected by LCA can benefit from opportunities to connect and share information with other families, medical specialists and advocacy groups. A vital element of the Sofia Sees Hope mission is to provide more opportunities for all people affected by LCA to connect and provide mutual support and information. For more information about Sofia Sees Hope visit our website.
If you'd like to support Sofia Sees Hope and our mission to educate and connect the LCA and IRD communities, you can donate here.
This webinar series is made possible by
- Past Webinars -
JANUARY 27, 2021 - 1:00pm ET
Senior Director, Scientific Outreach & Community Engagement
Foundation Fighting Blindness
Let’s Chat About … What’s in the therapy pipeline for Leber congenital amaurosis.
For 16 years, Ben has been reporting on retinal research for all of FFB’s electronic and print publications. In addition, he presents the latest scientific advancements at local and national events for patients and families, and conducts various training activities for staff and constituents. He enjoys working with constituents one-on-one to help them understand their retinal disease and the research underway that may benefit them. Ben also leads the company’s outreach to eye care professionals throughout the United States.
Ben has written three books – Retina Boy, Jerry’s Vegan Women, and The Vegan Monologues – all published by Loyola University (Maryland). He earned a Master of Arts in writing from Johns Hopkins University, a Master of Science in systems management from the University of Maryland, and a Bachelor of Science in computer information science from Cleveland State University.
FEBRUARY 16, 2021 - 3:00pm ET
Wiley A. Chambers, MD
Supervisory Medical Officer
Office of New Drugs, Center for Drug Evaluation and Research
Food and Drug Administration (FDA)
Let’s Chat About … What it takes to receive approval for a new treatment for rare disease.
Wiley A. Chambers, MD, is a Supervisory Medical Officer in the Office of New Drugs, Center for Drug Evaluation and Research at the Food and Drug Administration (FDA). After receiving an undergraduate degree from Colgate University, Dr. Chambers completed medical school and a residency in Ophthalmology at The George Washington University School of Medicine and Health Sciences in Washington, DC. He is currently a Clinical Professor of Ophthalmology and Adjunct Assistant Professor of Computer Medicine at The George Washington University. He joined the FDA in 1987, as a primary reviewer for ophthalmic drug products and in 1990 became a Supervisory Medical Officer for Ophthalmologic Drug Products. In this capacity, Dr. Chambers has supervisory responsibility for the clinical review of ophthalmologic drug products and ophthalmic therapeutic biologic products submitted to the Center for Drug Evaluation and Research. Additionally, Dr. Chambers is the recipient of numerous Public Health Service, FDA and Center for Drug Evaluation and Research awards for his work with the FDA and he has served as the American Academy of Ophthalmology’s Delegate to past United States Pharmacopeia Conventions.