MINIGENES USH2A
In the ‘minigenes’ project, the USH2A gene is artificially made smaller by taking specific parts of the gene and sticking these together (= minigene). This suddenly makes it possible to insert these minigenes into the current vectors for use in genetic therapy.
In this project the therapeutic effect of shortened USH2A protein variants will be tested in the zebrafish model.
The Stichting Ushersyndroom finances this study in 2016.
CRUSH STUDY
The expertise centre for Usher Syndrome in Radboudumc started in 2019 a natural development study into Usher Syndrome, de CRUSH study.
This is a very important step in the research into a treatment for Usher Syndrome, because this study may substantially shorten the running time for trials. The Stichting Ushersyndroom finances this five-year study with over €257,000,–, made possible by the donations of contributors and co-financing of the Dutch Dr. Vaillantfonds and the Oogfonds.
MINIGENES USH2C
The Stichting Ushersyndroom finances, with a contribution from CUREUsher from the UK/Ireland and Landelijke Stichting voor Blinden en Slechtzienden (LSBS), the new study into minigenes for USH2C.
The total grant for this study is € 250,000 and this study started in early 2020.
SLEEPING RESEARCH
In the zebrafish lab Radboudumc. From left to right: Erik de Vrieze, Thijs Bouwman, Niels Bouwman, Ivonne Bressers. Jessie Hendricks, Devran Braam, Erwin van Wijk and Juriaan Metz.
Are patients suffering from Usher Syndrome so tired because of the huge efforts made in connection with their poor hearing and eyesight or is something else going on? Researchers in the Radboudumc try to find an answers to this question. There are indications that perhaps there is more going on, a genetic cause.
In summer of 2021, the research into ‘The recognition of sleeping problems with patients with the USH2A gene’ stared. Stichting Ushersyndroom (Dutch Usher Syndrome Foundation) will finance a large part of this study.
DATABASE USH III
This year in 2021, the North-American foundation Usher III Initiative has taken preliminary steps towards collecting the information necessary to establish the first comprehensive global USH3 patient database. This resource will be critical to the design of future clinical trials and will significantly advance knowledge of the disease and its impact on patients. Dr Ronald Pennings from the Radboudumc is one of several physicians and experts around the world collaborating with the Initiative in this effort.
Stichting Ushersyndroom [Dutch Usher Syndrome Foundation] has committed to making a $ 10,000 contribution to support this effort. This grant aligns with the mission of the Stichting Ushersyndroom, to find treatments for all types of Usher syndrome.
TESTING GENE THERAPY
The Stichting Ushersyndroom has funded a large part of the new research “Genetic drugs preventing blindness due to loss of USH2A function”. This investigation started at the end of 2021. The research team led by Jan Wijnholds, who works at the Leiden University Medical Center (LUMC), will test 2 treatment methods on ‘mini-retinas’ made from human stem cells. The researchers want to study whether the light-sensitive cells in the mini-retinas are expressed after gene therapy has been administered. Can the USH2a gene in the retina be replaced or is it also possible to repair the defective gene on the spot?
STATE OF AFFAIRS
The board of the Usher Syndrome Foundation annually discusses the progress of the studies it has funded. Below you can read more about the state of affairs and progress.
MOON ROCKET GRANT
At the end of 2021, the Stichting Ushersyndroom [Dutch Usher Syndrome Foundation] reached 1 million in donations. What has the foundation done with it? We provide an overview and a glimpse into the future.