Introduction
The urgent mission of the Foundation Fighting Blindness is to support the development of treatments and cures for inherited retinal dystrophies, including Usher syndrome, which is the most common genetic cause of combined deafness and blindness. There are three different types of Usher syndrome, defined by its severity, each having subtypes based on the genetic cause. Although individuals clinically diagnosed with Usher type 1 demonstrate similar symptoms, the genetic causes differ between sub-types. Usher syndrome type 1B is the most common form of Usher type 1 and accounts for 40% of all cases. There are currently no treatments for USH1B. The disease-causing gene variant for Usher 1B is MYO7A.
This Workshop is designed to bring together leading experts from academia and industry, to discuss openly, and in detail, what is known about Usher 1B disease pathology, disease models, clinical characteristics, and therapeutic approaches. The agenda will also include a roundtable on emerging therapies with representatives from industry. Importantly, we will also hear from affected individuals and their families in order to ensure their perspectives for care, treatment and therapies inform both research and clinical studies.
Members of the My Retina Tracker Registry who have indicated their clinical diagnosis is Usher 1B and have had genetic testing that identified a variant in MYO7A will be sent a link to an on-line survey regarding their expectations and perspectives on emerging possible treatments and therapies.
The on-line survey results will inform the clinicians and researchers attending this workshop. This is an important opportunity for Registry members to participate in the research and is vital to the success of this discussion.
Workshop Format
The Workshop was held virtually on September 13, 2021 from 9 a.m. to 5 p.m. CST. This full day meeting was co-chaired by Dr. Shannon Boye and Professor José-Alain Sahel, leaders in the USH1B field.
If you have any questions about the workshop, please email lkenney@fightingblindness.org .
Workshop Goals
The goals of the Workshop are to review the Usher 1B landscape, energize the clinical and research community through shared learnings, and identify knowledge gaps for future work. Importantly, the Foundation seeks to understand how we can facilitate next steps. We also look forward to hearing from affected individuals and patient advocates.
Workshop Agenda
Download the latest agenda here.
USH1B Landscape
The Usher syndrome 1B Landscape is a comprehensive document representing a broad literature review related to USH1B. It summarizes data, news, and events from multiple sources, including peer-reviewed articles, conference abstracts, press releases, and Web-based sources.
Usher 1B: Works in Progress and Knowledge Gaps by Dr. José-Alain Sahel, MD
Speaker Slides
Workshop Presenters
- Shannon Boye, PhD, University of Florida
- José-Alain Sahel, MD, University of Pittsburgh
- David Williams, PhD, University of California, Los Angeles
- Martha Neuringer, PhD, Oregon Health & Science University
- Aziz El-Amraoui, PhD, Institut Pasteur
- Jacque Duncan, MD, University of California, San Francisco
- Joe Carroll, PhD, Medical College of Wisconsin
- David Gamm, MD, PhD, University of Wisconsin-Madison
- Mark Pennesi, MD, PhD, Oregon Health & Science University
- Isabelle Audo, MS, PhD, Institut De La Vision, Paris
- Alberto Auricchio, MD, University "Federico II”
- Serge Picaud, PhD, Ecole des Neurosciences, Paris
- Hannah Nonarath, BS, MS, Medical College of Wisconsin
- Atsena (Patrick Ritschel, MBA)
- Nacuity (Halden Conner, MBA/Jami Kern, MBA, PhD)
- Eloxx (Sumit Aggarwal, MBA/Vijay Modur, PhD)
- ProQR (Aniz Girach, MD)
Foundation Staff
- Ben Yerxa, PhD
- Claire M. Gelfman, PhD
- Rusty Kelley, MBA, PhD
- Todd Durham, PhD
- Amy Laster, PhD
- Chad Jackson, PhD
- Ben Shaberman
- Leilla Kenney
