ERN-EYE WEBINAR – USHER Syndrome
Date and time
Friday 29 November, 3.30 pm CET.
Programme
- Introduction of the speakers, Pr Katarina Stingl, University Tübingen, Germany.
- Clinical aspects of Usher syndrome, Pr Katarina Stingl, University Tübingen, Germany.
- Disease progression of USH1B and Implications for Gene Therapy, Pr Francesca Simonelli, University of Campania Luigi Vanvitelli, Naples, Italy
- What is relevant for patients and their families, Dominique Sturz, ERN-EYE ePAG chair
- Discussion and questions
Registration
Biographies
Katarina Stingl, MD is a professor for Ophthalmology and head of the Center for Rare Eye Diseases and the Clinical Unit for Inherited Retinal Degenerations of the University Tübingen.
Katarina Stingl is an internationally acknowledged expert in clinical and genetic diagnostics of inherited retinal diseases and heads also a research group for multimodal retinal diagnostics in ophthalmology including electrophysiology, retinal imaging, retinal functional evaluations, and metabolic retinal imaging. She works on more than 15 clinical trials for inherited retinal diseases as PI or Co-PI and has years of experience not only in genetic therapies of the retina, but also visual implants, pharmacotherapy and electrostimulation.
Francesca Simonelli was born in Nola (Naples), Italy, in 1959. She received a Degree in Medicine and Surgery from the University of Naples Federico II, Naples, Italy, in 1983, and Residency in Ophthalmology from the School of Medicine, University of Naples Federico II, in 1987.
She is currently Full Professor of Ophthalmology at the Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy. She has authored or co-authored about 250 journal and conference papers in Ophthalmology. Prof. Simonelli is Chief of the Eye Clinic, of the School of Specialization in Ophthalmology, of the Centre of Rare Ocular Diseases, and of the Unit for Advanced Ocular Therapy at the University of Campania Luigi Vanvitelli.
Prof. Simonelli is a member of the Association for Research in Vision and Ophthalmology, former President of the Italian Society of Ophthalmologic Genetics, member of the National Fighting Blindness Committee of the Italian Ministry of Health, of the Regional Committee for Rare Diseases, and of the Italian Society of Ophthalmology, and President of the Scientific Committee of Retina Italia Onlus.
Dominique Sturz is the ERN-EYE ePAG chair and the dedicated patient advocate for Usher syndrome. Based in Austria, she is actively involved in building awareness and support for the Usher community. She is also a mother of a young adult with Usher syndrome subtype one.