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.
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.
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.
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.
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.
The efforts of Dr. Ronald Pennings and Dr. Suzanne Yzer are mainly focused on the natural course study and are based on data from the past that are already available in existing medical files.
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?
In the pilot study “Investigating the exosome content as a novel marker for Usher syndrome 1b” Dr. Irene Vázquez Domínguez will investigate tears. By doing this, she wants to assess whether there is any indications on tears that can be employed as a source of information and therefore may contribute to not only increase the current knowledge of the disease but also to allow better prediction of the development of Usher Syndrome type 1b.
This study aims at permanently removing specific exons, which include hereditary mutations when patients are concerned, from the DNA of the photoreceptors in the retina and/or the hair cells of the inner ear with the help of the CRISPR/Cas9 gene editing technique.
A study that will test the best approach for USH1B (gene) therapy by making use of, among others, patient-specific cell models and a large animal model. This may take a (gene) therapy for USH1B to the pre-clinical phase. Dr. Kerstin Nagel-Wolfrum, who works at the Johannes Gutenberg University in Mainz, will lead this project.
The second research that will start with the help of the ‘Moon Rocket Grant’ is the research of Monte Westerfield from Oregon (USA) and Erwin van Wijk (Radboudumc). In this international collaboration they investigate the methodology of “Exon skipping as a future treatment for USH1F patients”.
prof. Mariya Moosajee from London (UK) will, with the help of the ‘Moon Rocket Grant’, conduct research into the “Use of non-viral plasmid vectors for Usher Syndrome”. She has developed a DNA plasmid for this purpose, which can contain the full-length USH2A DNA.
The board of Stichting Ushersyndroom annually discusses the progress of the studies it has funded together with the members of the Medical Advisory Board (MAR). Below you can read more about the state of affairs and progress.