LCA Family Conference 2019 Brings Together Rare Retinal Disease Community

 In Blog

Superstar geneticists and a host of retinal doctors, researchers, advocates, industry leaders and patients converge in Philadelphia this weekend when Sofia Sees Hope presents its second LCA Family Conference.  

As a global advocacy organization helping those affected by blindness, Sofia Sees Hope connects families with Leber congenital amaurosis (LCA) and other rare inherited retinal diseases (IRDs) through its Family Connections program and events such as the conference at the Warwick Hotel Rittenhouse Square from Friday, July 26, to Sunday, July 28. 

The gathering creates opportunities for thoughtful and interactive exchanges of knowledge, ideas, and viewpoints in sessions focusing on research, future treatments, advocacy, and people sharing their stories. 

The conference is sponsored by MeriaGTx, Editas Medicine, Spark Therapeutics, Sanofi Genzyme, Foundation Fighting Blindness, Allergan, ProQR, Two Blind Brothers, Applied Genetic Technology Corp. (AGTC) and Lions Clubs International

Following a Friday welcome reception, Sofia Sees Hope Board Chair Laura Manfre and Executive Director Annette Tonti kick off the conference Saturday morning.

Research Updates

From our partners at Foundation Fighting Blindness, CEO Ben Yerxa, Ph.D., will share retinal disease research updates and discuss approaches to tackling tough problems to fight blindness. Dr. Yerxa is responsible for the overall management of the Foundation, the world’s leading private funder of research on potential treatments and cures for inherited retinal degenerative diseases.

Dr. Katherine High of Spark Therapeutics headlines the event in a keynote speech titled: “The Long and Winding Road of the Human Genome Project and Gene Therapy.”

Dr. High is an accomplished hematologist with a longstanding interest in gene therapy for genetic disease. As the director of the Center for Cellular and Molecular Therapeutics at Children’s Hospital in Philadelphia (CHOP), she assembled a multidisciplinary team of scientists and researchers. At Spark, she has led the development and regulatory approval for the first gene therapy for a genetic disease in the United States. Marketed as LUXTURNA™,* the genetic therapy targets RPE65, one of the more than 25 gene mutations caused by LCA.

Dr. Jean Bennett is the scientific leader of the Spark team that translated reversal of blindness in animals to demonstration of efficacy and safety in children and adults. She is Director of the Center for Advanced Retinal and Ocular Therapeutics (CAROT) at the University of Pennsylvania Perelman School of Medicine. Her work led to the development of LUXTURNA™, the first and only approved gene therapy for inherited disease in the country and Europe, and the first approved gene therapy product targeting a retinal disease worldwide.

One Disease, Many Approaches

Dr. Bennett will take part in a session called “One Disease, Many Approaches” moderated by Brian Mansfield, Ph.D., Executive Vice President of Research and interim Chief Scientific Officer at Foundation Fighting Blindness. 

Dr. Mansfield ensures implementation of the Foundation’s scientific research strategic plan and leads new technologies, treatments and therapies for retinal degenerative diseases. He also heads the Foundation’s genetic testing program and its patient registry called My Retina Tracker®.  

Three more experts round out the panel:

Dr. Tomas Aleman

Dr. Aleman is Director of the Center for Hereditary Retinal Degenerations at the Perelman Center for Advanced Medicine and Director of Retinal Degeneration Service at UPenn’s CAROT. He will be the director of several upcoming gene therapy trials, including trials targeting two forms of LCA.

Michael Schwartz 

Michael Schwartz is Vice President of Ophthalmology and Global Project Leader for Sepofarsen at ProQR. He is a biopharmaceutical executive whose highest priority is to lead the Sepofarsen project through development stages to provide this LCA10 (CEP290) treatment to patients as quickly as possible.

Pam Stetkiewicz

Pam Stetkiewicz is Vice President of Program Management at Editas Medicine. She has been leading the team, along with Editas’ collaborators, Allergan, to develop a gene-editing product to treat LCA10 (CEP290).

‘Your Voice Matters’

Annette Tonti of Sofia Sees Hope moderates a session featuring representatives from industry and rare disease organizations. The members of the panel titled “Your Voice Matters!” are:

Jamie Ring

Jamie Ring is Head of Patient Advocacy at Spark Therapeutics. She is responsible for patient advocacy activities related to Spark’s disease areas of interest, particularly inherited retinal disease. She previously provided strategic oversight of advocacy at Genzyme and managed partnerships with the company’s global humanitarian programs.

Jill Dolgin

Jill Dolgin is Head of Patient Advocacy at AGTC. She brings the voice of the patient to small- and medium-sized biotechnology companies to ensure consideration and incorporation of patients’ needs in every aspect of drug development. She has more than 20 years of biopharmaceutical experience in medical affairs, patient and professional advocacy and public policy.

Emily Milligan

Emily Milligan is Executive Director of the Barth Syndrome Foundation. She has dedicated her career to improving the lives of children and their families through scientific advancements. She launched the T1D Fund, an $80 million, mission-driven venture fund developing products for Type 1 Diabetes.

Terri Booker

Terri Booker is Co-founder of the Young Adult Sickle Cell Alliance and a lawyer licensed to practice in Pennsylvania, New Jersey and New York, working with various nonprofits to help dispense justice. After her last hospitalization, she realized doctors and nurses had no idea about sickle cell and became an active sickle-cell patient advocate, speaking throughout the country.

All About Clinical Trials

Ben Shaberman is Senior Director of Scientific Outreach & Community Engagement at Foundation Fighting Blindness and moderator of a session called “All About Clinical Trials.” Ben reports on retinal research for the Foundation’s electronic and print publications and presents the latest scientific advancements at local and national events. 

The panel members are:

Dr. Wiley Chambers 

Dr. Chambers is Supervisory Medical Officer in the Office of New Drugs in the U.S. Food and Drug Administration. He has supervisory responsibility for the clinical review of ophthalmologic drug products and ophthalmic therapeutic biologic products submitted to the FDA’s Center for Drug Evaluation and Research.

Tami Morehouse 

Tami Morehouse and her husband, Michael, experienced the groundbreaking effects of genetic retinal therapy when Tami became part of the Phase 1 RPE65 genetic therapy trial years before the drug came to market in December 2017. Tami, who was 44 when she took part in the trial, became a pioneer in the LCA world as the oldest person to have received the treatment. 

Dr. Michel Michaelides 

Dr. Michaelides is Head of Clinical Ophthalmology and a Founding Member of MeriaGTx. He was awarded fellowships at Moorfields Eye Hospital (MEH) and Casey Eye Institute, and he is the Principal Investigator of three active interventional clinical trials and has 10 ongoing ethically approved studies.