The future depends on the present

A Year of Progress

Our journey towards a cure for Usher syndrome 1B has been fueled by a collective sense of purpose and unwavering determination. This year, we have made remarkable progress in several key areas.

Research Funding: We have secured funding for groundbreaking research projects that are pushing the boundaries of scientific knowledge:



• Research grant awarded by the Foundation Fighting Blindness that will support five years of development of new therapies for Usher syndrome 1B at L’Institut de la Vision in Paris. An award supporting world-renowned researchers such as Isabel Audo, Aziz El-Amraoui and Deniz Dalkara, and Serge Picaud. 
• Research grant awarded by UsherSyndroom organisation for Kerstin Nagel-Wolfrum that will cover the work towards establishing USH1B-patient-specific cellular models that will allow the testing of new gene therapies.
• Direct funding from Save Sight Now Europe (SSNEU) to support the research led by acclaimed Usher Syndrome researcher David Gamm. The focus of this work is the development of a modified variant of human embryonic stem cells, incorporating a labeled MYO7A gene. These cells are systematically expanded, analyzed, and securely stored.
• Uni-Rare: in a significant step toward a cure for Usher 1B, the Foundation Fighting Blindness has included Usher 1B in the groundbreaking Uni-Rare natural history study. This study will provide valuable insights into the progression of Usher 1B and guide the development of effective treatments.

Save Sight Now and Save Sight Now Europe is proud to have played a key role in supporting these important achievements.

Community Engagement: We have expanded our community outreach efforts, fostering connections with Usher and Inherited Retinal Diseases (IRD) organisations, families, healthcare professionals, and researchers worldwide:

• Noteworthy connections were established with organisations like UsherKidsUK, Usher Kids Australia UsherSyndroom, Usher Syndrome Ireland, Noisy Vision, Rare-X (Global Genes) and Usher Syndrome Coalition further strengthening our collaborative approach.
• USHChats resumed, fostering connections within the Anglo-Saxon community and the Spanish-speaking community, providing a platform for mutual support and knowledge-sharing.

Public Awareness: We have raised awareness about Usher syndrome 1B, educating the public and inspiring individuals and families to join our cause:

• Efforts to be present in the media have led us to interviews and articles in national media in Switzerland (RTS) and Spain (Catalunya Ràdio, TV3, RAC1, La Vanguardia, Tele 5, Agencia EFE, COPE) as well as local media in Fribourg, Deltebre, Barcelona, Cerdanya, Maresme, etc. 
• Different events that have been led by the Organisation or families and friends in their communities such as the Usher Race, the Solidarity Race in Deltebre or La Mescla, l’Escalade Race in Geneva, a Soirée in Fribourg, several theatre shows and solidarity stands or La Nit de la Visió (presentation of the Foundation) in Barcelona, that has generated valuable support and momentum.

Milestones Achieved

This year has been marked by several significant milestones that underscore our progress

• Two dads: In February 2023, Lia and Bruna fathers, co-founders of Save Sight Now (USA) and Save Sight Now Europe, met in person for the first time at the Foundation Fighting Blindness Investing in Cures Conference.

• Save Sight Now Europe met Dr. Shannon Boye and Dr. Jean Bennett, pioneers in the field of inherited retinal disease treatments. Their work is inspiring, and we are grateful for the opportunity to learn from them and collaborate on finding a cure for Usher 1B.

• As SSNEU we have been present at the following IRD conferences and events promoting Ush 1B awareness and research: FFB Investing in Cures Summit 2023, ARVO (Association for Research in Vision and Ophthalmology) 2023, EURORDIS Open Academy School on Medicines Research and Development, EURORDIS Training for patient representatives and advocates on leadership and communication skills, SfN (Society for Neuroscience).

• Establishment of the Save Sight Now Europe | Usher Syndrome Foundation: The establishment of the foundation in Spain has provided a robust legal framework to support our endeavors, enabling us to expand our reach and impact. A new website that will host all the content of the SSNEU initiative, the Swiss association, and the Spanish foundation, is about to be launched.

• Establishment of an esteemed scientific advisory board comprising world-renowned clinicians and researchers. Their expertise and guidance are crucial as we navigate the intricate path towards effective treatment options.

• Collaboration with the Institute of Molecular and Clinical Ophthalmology Basel: Our partnership with the IOB has provided us with access to leading expertise in ocular genetics, Botond Roska and Bence Geörgy, fostering valuable collaborations and insights.

• Vision Consortium: as a non-profit research organisation, we have joined and periodically participate in the Vision Consortium Research Working Group Meeting and the Vision Consortium Task Force for Patient Organisations. The goal of these engagements is to raise funds, advocate for the urgent need for treatment development, and encourage industry and pharmaceutical companies to expedite the development of treatments and clinical trials for inherited retinal diseases.

• Inclusion of Usher 1B in the Foundation Fighting Blindness's Uni-Rare natural history study: This study aims to better understand the progression of Usher 1B and guide the development of effective treatments.

A Year of Hope



As we look towards the future, we are filled with hope and optimism. The progress we have made this year is a testament to the power of collaboration, continuous work, and the unwavering commitment of the community.

We are incredibly grateful to our donors, partners, and supporters who have made our work possible. Your generosity and belief in our mission are the driving force behind our efforts.

Together, we will continue to push the boundaries of science and bring hope to those affected by Usher syndrome 1B.

Together, we can create a world where everyone has access to life-changing therapies for

Usher Syndrome type 1B.

We wish you a year filled with health, love, and positive developments.

With gratitude,

Bruna, Arnau, Berta and all Save Sight Now Europe team.

SAVE SIGHT NOW EUROPE

THE FUTURE DEPENDS ON THE PRESENT