What has Stichting Ushersyndroom [Dutch Usher syndrome Foundation] done with it?
We provide an overview and a glimpse into the future.
Mini genes USH2A
In the ‘mini genes’ 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.
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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. Stichting Ushersyndroom finances this five-year study.
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- Patient and physician jointly take the first step towards treatment of deafblindness
- CRUSH study and database for unraveling Usher Syndrome
- Report CRUSH study
Mini genes USH2C
In 2019, the Usher Syndrome Foundation funded the new research into Minigenes for USH2c. USH2c is caused by mutations in the USH2c gene (ADGRV1), and these errors in the gene lead to a progressive form of hereditary deafblindness. However, this gene is very large, so researchers want to try to make an artificially shortened version of the ADGRV1 gene. These mini-genes will be small enough to fit into a ‘viral vector’, but at the same time they must also remain functional.
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- Patient and researcher form a tandem in scientific research into Usher Syndrome
- How are things going with the ‘minigenes USH2c’ study?
Knowledge portal Usher syndrome
The Usher Syndrome knowledge portal is made available by Stichting Ushersyndroom.
A portal that has been developed for and by people with Usher syndrome in which they have bundled all their knowledge and information as experience experts and ‘Usher experts’.
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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 will finance a large part of this study.
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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.
Stichting Ushersyndroom has committed to making a contribution to support this effort.
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Extra large vectors on mini retinas
Stichting Ushersyndroom is funding the majority of the new research “Genetic drugs preventing blindness due to loss of USH2A function” which has recently started. The research team led by Jan Wijnholds, who works at the Leiden University Medical Center (LUMC), will test two treatment methods on ‘mini-retinas’ made from human stem cells. The researchers want to determine if the light sensitive cells in the mini-retinas can be activated by the light-sensitive cells after administration of gene therapy.
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The dot om the horizon
The mission of the Stichting Ushersyndroom is: “In 2025, Usher Syndrome will be treatable!” This is the all-encompassing goal, the “moonshot”, from which everything else is derived. This is why Stichting Ushersyndroom is here.
- At the beginning of 2022, Stichting Ushersyndroom will send out a call: The Moon Rocket Grant. Researchers worldwide can submit an application for a grant that contributes to the mission ofStichting Ushersyndroom: “Usher Syndrome will be treatable by 2025!”.
- A patient brochure is in the works and will be released in early 2022. It will be available online and offline.
- In 2022 we will start with the first webinar. This is accessible to everyone who is committed to the mission of the Stichting Ushersyndroom. A new webinar with a different speaker every quarter.
- Of course we also want to send out a new call: Rocket Fuel Grant. And the desire to be able to subsidize even more research projects that can lead to a solution for all people with Usher syndrome.
We are well on our way to the dot on the horizon! However, a lot of money is still needed. Can we count on your support again in the coming years?
Do you have any questions or do you want to support the foundation? Send an email to firstname.lastname@example.org