Research projects supported with our fundraising.


February is low vision awareness month and therefore it is the right time to give you this important news. In fact, through our channels we urged supporters to organize Facebook fundraisers in favor of NoisyVision, clarifying that all the funds raised will be donated to research on retinal dystrophies.

In October 2018 our friend Victor run the Munich Marathon and we srtated a crowdfunding for REtinitis PIgmentosa.
We did a quite big campaign and we managed to raise nearly 5000 EUROS from donors from all over the world.

Victor went personally to deliver the check, because we wanted to make sure the funds were secured in the right hands and that they were used to support research. Here are the projects supported by RETINA UK to which we are proud to have contributed.

Continue to follow and support NoisyVision, we want to do things in the most transparent way.




Retina UK: Research you are enabling us to fund.

Report prepared February 2020
Thank you so much for contributing towards pioneering medical research into inherited retinal dystrophies (IRDs). The first treatment for one condition was recently approved for funding on the NHS, and with your support we can build on this momentum by continuing to invest in a wide range of promising research. We hope you enjoy reading this report which summarises how some of our current projects are progressing.

Natural exon skipping in ABCA4 mRNA and its modulation as a novel generic therapy for Stargardt disease.
Stargardt disease is a macular dystrophy which affects people from childhood and for which there is no cure. In some people with milder Stargardt’s, bits of the genetic code are mistakenly “skipped”, so like a recipe with steps missing, the resulting protein doesn’t turn out like it is supposed to. The researchers have used the first few months of the project to construct some artificial changes to the ABCA4 gene so that they can tease out the causes of the skipping; later, they will move on to work out how to combat these and increase healthy protein production.

Understanding the disease mechanisms and developing new therapies for RDH12-related Leber congenital amaurosis (LCA).
LCA is the most severe form of early-onset retinal degeneration. This projects aims to increase knowledge of the molecular basis of this disease and accelerate development of an effective treatment. The team has made good progress in their first year, developing effective cellular models to understand how genetic changes impact protein function. They have also begun the generation of a zebrafish disease model that will allow them to study the effect of mutations on the eye as a whole and test drug compounds.

Non-viral gene therapy using S/MAR vectors for Usher Syndrome.
Usher syndrome affects both sight and hearing and is caused by faults in a large gene that does not fit into the viruses traditionally used for gene therapy delivery. This project explores an alternative gene delivery system called S/MAR, which may be of use for a wide range of inherited retinal dystrophies as well as Usher syndrome. During the project’s first year, the team has worked out how to package the Usher’s gene into the S/MAR vector and is making good progress on the development of models to test this potential new therapy.

Investigating the role of alternative splicing in autosomal dominant retinitis pigmentosa (RP) using an induced pluripotent stem cell disease model.
RP is commonly caused by a fault in a group of genes that regulate the editing of unwanted passages out of a set of genetic instructions, a process known as splicing. Already, the team’s work suggests that retinal cells are much more affected by mis-splicing than other types of cell. Using stem cell technology to generate retinal cells from patients’ skin, the researchers have established how splicing defects disrupt protein production and gained some insight into the mechanisms leading to degeneration.

Modelling effects of TIMP-3 mutations in RPE – insights into Sorsby fundus dystrophy and night blindness in retinal dystrophies.
This project explores how changes in a protein called TIMP-3 damage the retinal pigment epithelium (RPE), leading to Sorsby fundus dystrophy. The researchers have used RPE cells derived from the stem cells of Sorsby patients to explain ways in which diseased cells are structurally and functionally affected, and presented their results at a major professional conference. The team will go on to use gene editing to further understand the varying effects of different mutations and will look at whether this technology might be a viable treatment.

Identification and functional characterisation of the missing ABCA4 variants in Stargardt disease.
Most cases of Stargardt disease are caused by faults in the ABCA4 gene, but many people with Stargardts have no mutations in the sections of this gene that code for the building blocks of the ABCA4 protein. To find the “hidden” mutations in these cases, this project has already developed a cost-effective sequencing method for the entire gene, including non-coding sections that can have significant influence on how the coding regions are interpreted. The team has used their method to sequence 1,000 Stargardt’s cases, finding several new disease-causing variants within the non-coding sections. They have also developed a system to test the effects of these variants and will go on to look at how a special molecular “patch” could be used to correct faults.

‘The Gene Team’ at UCL Institute of Ophthalmology and Moorfields Eye Hospital.
The team are exploring the viability of gene therapy for a range of inherited retinal conditions, and building a pipeline of clinical development. So far, they have instigated three early phase clinical trials and are considering expansion of one of these into a phase 3 trial. They have also amassed considerable expertise in the development of gene therapy delivery systems (vectors) and are applying this to the preclinical development of a number of therapies for retinal conditions and related syndromes.

The RP Genome Project (also known as the UK Inherited Retinal Dystrophy Consortium).
Eight of the largest research groups in the UK specialising in IRDs have come together to widen the scope for collaboration and the availability of data and resources. The team have significantly increased available capacity for storing, sharing and analysing genetic data by investing in IT infrastructure. To date, they have recruited more than 500 participants living with IRDs; using their genetic samples, the researchers have identified six new disease causing genes and have been able to find the genetic basis for disease in more than 230 cases. The consortium has produced 26 publications, with a further 12 under review.
Retina UK has now granted the UKIRDC team further funding, which they will be seeking to match by making applications to other funding bodies including NIHR and The Wellcome Trust.

Leave a Reply

Your email address will not be published. Required fields are marked *

This site uses Akismet to reduce spam. Learn how your comment data is processed.