Recaps Autumn 2019


Inaugural Meeting of Retina International Special Interest Group on Usher Syndrome in Paris, 21 September 2019, Global Usher Awareness Day

At the occasion of Global Usher Syndrome Awareness Day on Saturday 21 September, the USH SIG Committee came together for a meeting in the Fondation de l’Audition in Paris. Dominique Sturz (Austria), Carol Brill (Ireland) and Dario Sorgato (Italy) enjoyed the warm welcome from hosts Marie-Josée Duran and Salma Hazgui of the Institut de l’Audition. Our fourth Committee member Melissa Chaikof (USA) joined the meeting by teleconference, thanks to the fantastic facilities at the venue. We were also pleased to welcome Professor Isabelle Audo of the Institut de la Vision, and Alice Lapujade (France).

The group discussed at great length the structure and strategy of USH SIG and we are happy to outline the following:

1. Proclamation: “We are a patient led group working together towards the provision of up to date relevant information about research and about expert research centers for people living with Usher Syndrome and advocating about the development of therapies for the global Usher Syndrome community.”

2. Establishment of a Scientific Advisory Panel to ensure that information shared by USH SIG on scientific research on Usher Syndrome is accurate

3. Calendar of Events – to keep the Usher community informed of relevant events

4. Communication Strategy – information will be shared in a Newsletter format with national organisations associated with Usher Syndrome



ERN Eye Workshop on Clinical Trials & Research, 21-22 Nov 2019, Strasbourg

The workshop of the European Reference Network for Rare Eye diseases was preceded by the 2nd Sensgènes Annual Day, where the French affiliated center for Rare Sensory Diseases gave an update on the state-of-the-art research (ear and eye) done in France and with international collaboration.

At the ERN Eye workshop member states presented their updates on clinical trials of gene therapies and about access to and reimbursement of Luxturna (the first approved gene therapy for a rare eye disease: LCA due to REP65 mutation). Also treatment options under development in collaboration with international partners were discussed. For information on how to access genetic testing and clinical trials see our resource file about USH subtypes, USH genes and genetic testing below. For more info about clinical trials and full members and affiliated partners of ERN Eye see An update about new full members will be available in 2020.

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