The developments in the research laboratory

Despite the corona crisis, which has dominated our country for some time and as a result of which the research laboratory of Erwin van Wijk in the Radboud UMC for some time, quite some progression was made in the past year. Below you will find an overview of the most important achievements of last year. 

‘Genetic patches’ 

• ProQR Therapeutics published the very promising intermediate results of the Stellar last April! In this Stellar trial the first group of people (with ‘faults’ in a specific part of the USH2A gene (exon13)) were treated on an experimental basis with the QR-421a molecule, the scientific basis of which was laid in the Radboud UMC. For this also take a look at ‘ProQR publishes the first results of STELLAR’ or the website of ProQR Therapeutics, which Erwin and his colleagues closely cooperate with.
• This year also saw significant progression in the development of ‘genetic patches’ for four other parts of the USH2A gene. More information will be provided about this in the course of the year 2021. 
• We set up the Dutch Center for RNA Therapeutics together with the LUMC. In this centre we will develop genetic patches for covering extremely rare hereditary faults. ‘Extremely rare’ means that they occur only once or twice in the whole world. The development of the layout and the set-up of the centre portal is still in full swing. Here you can read additional information about the foundation of the DCRT: A genetic patch for very rare mutations. An update will follow in the course of this year.  
• In cooperation with the research group of Dr Monte Westerfield and Dr Jennifer Phillips (University of Oregon, USA) and the USH1f Collaborative, we expanded the genetic patch methodology to the PCDH15 gene (= Usher syndrome type 1F). 

Minigene therapy 

• The development of a minigene therapy for Usher syndrome type 2C was started in April 2020. This is a four-year PhD project financed with contributions from the Usher Syndrome Foundation, LSBS and CureUsher. A part of this project also included further optimisation of USH2A minigenes. 

Study into quality of life: Sleep study 

• Apart from their visual impairment, many people suffering from hereditary poor eyesight and Usher Syndrome also have sleeping problems, possibly as a result of a deviating day-night rhythm. These problems have a great impact on the well-being of patients suffering from hereditary blindness, but they are hardly recognised as a part of the disorder. We wrote a four-year research proposal aimed at gaining a better understanding of this problem, making the scientific world, care professionals and health insurance companies recognise this and, finally, solving this by having it included as a part of the current care paths. After assessment by a scientific committee, the project ended up in the top 3 of best projects! About two thirds of the required funds have been assigned by ANVVB, LSBS, Stichting Beheer het Schild, the Gelderse Blindenstichting en the Usher Syndrome Foundation. At this moment we are raising the remaining part of the required funding so that we can actually start this important study by mid-June 2021! Read more about ‘Recognition of sleeping problems with patients’.