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Session 25 steffen_suchert

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Session 25 steffen_suchert

  1. 1. A „Family Project“ to fight Usher, a rare disease leading to deaf-blindness Steffen Suchert FAUN-STIFTUNG Nürnberg EURORDIS Rare Diseases Europe, Krakow FAUN-STIFTUNG Nürnberg 15.05.2010
  2. 2. <ul><li>1. OUR MISSION </li></ul><ul><li>When you have two 18- and 20-year-old sons deaf from birth, who wants to be an architect and a photographer and have a great life ahead of them, you‘re curshed when you learn they are loosing their eyesight to Usher, a very rare genetic disease. There is nothing we can do for you, go home and learn Braille and Lormen, you will go blind, Andreas and Matthias were told by physicians in 1994. </li></ul><ul><li>In contrast we started our „Family Project“ to fight our sons disorder. Although we knew that success is by no means guaranteed, all the nightmares and dead ends in our search for a therapy came as a surprise. But we could also achieve inspiring support from highly motivated scientists, private equity and European Agencies . </li></ul>EURORDIS Rare Diseases Europe, Krakow FAUN-STIFTUNG Nürnberg 15.05.2010
  3. 3. <ul><li>2. GOING OUR WAY </li></ul><ul><li>First, we founded a private charity, the FAUN-STIFTUNG, to finance basic research for Usher and worked on building collaborations in the EU and the US like the Foundation Fighting Blindness, the Pro Retina Foundation or the Fondation Voir & Entendre e. g. </li></ul><ul><li>Second we founded a medical device company to develop a retina implant, a chip for the eye to give back some useful vision to the blind. </li></ul><ul><li>To identify the genetic background and the molecular mechanisms of the missing protein, we moved from fragemented basic research in identifying the gene and the protein to shared objectives and disease specific in alliances with the European Science Foundation in the TREATRUSH project FP-7 Health. </li></ul>EURORDIS Rare Diseases Europe, Krakow FAUN-STIFTUNG Nürnberg 15.05.2010
  4. 4. <ul><li>3. A REAL THERAPY OPTION </li></ul><ul><li>We validated avenues, aimed to come to clinical trails: molecular genetic strategies for gene therapy, cell-based treatments with a neurotrophic factor and a drug to halt the progressive of the disease and further test with „our“ Retina Implant, activities with the potential of direct benefit to patients. </li></ul><ul><li>We learned that USH 1C is an ultra rare one, on the mutation level: up to now no other patient in the EU or the US with this specific condition is known. By checking cross-thematic approaches we could identify a real therapy option from a drug of a company which is with this drug in clinical phase II / III for Duchenne. </li></ul>EURORDIS Rare Diseases Europe, Krakow FAUN-STIFTUNG Nürnberg 15.05.2010
  5. 5. <ul><li>4. NEXT STEPS </li></ul><ul><li>Therefore we have focused our activity as follows: </li></ul><ul><li>We will strengthen research activity within the European TREATRUSH project </li></ul><ul><li>We will pursue in collaboration with a German funding agency (DFG) and the FFB further tests in a bio-lab in Germany, University of Mainz, to see if PTC 124 will stop the degeneration process in the retina in humans. </li></ul><ul><li>We try to raise awareness of companies in order to invest in a therapy for Usher 1C, and ultra rare diesease. Therefore we will publish next the first results and conclusions from tests in vitro and in vivo with PTC 124. For the first time with a real therapeutic potential. </li></ul>EURORDIS Rare Diseases Europe, Krakow FAUN-STIFTUNG Nürnberg 15.05.2010
  6. 6. <ul><li>5. PREPARING A CLINICAL TRIAL </li></ul><ul><ul><li>The road to a cure in rare diseases and research from bench to bedside looks more numerous than ever before. Unlike the early day we see now a promising option for a therapy. It depends on the cooperation of interdisciplinary teams in center of excellence with a critical mass of expertise to set up a strategy for a clinical trial in Europe or in the US. For this funding is a critical issue. </li></ul></ul><ul><ul><li>We as persons with disabilities expect to be active research partners, expect to become research supporters, or research managers when we are accepted on eye level in government private sector partnerships to work on our own success. </li></ul></ul>EURORDIS Rare Diseases Europe, Krakow FAUN-STIFTUNG Nürnberg 15.05.2010

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