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Innovation Fund 2017 - an update

01 August 2017

We are so grateful to everybody who contributed to this year’s Innovation Fund appeal. Thanks to your support our Trustees have been able to select three new research projects to fund. The decision making process was extremely difficult, as each of the shortlisted projects featured internationally competitive research, but after much deliberation the following investigations were selected:

Identification and functional characterisation of the missing ABCA4 variants in Stargardt disease
Project start date: July 2017

ABCA4 mutations affect the majority of people with recessive Stargardt disease and about 30% of those with con-rod dystrophy. This project aims to develop a cost-effective sequencing method for the entire ABCA4 gene, sequence 1,000 Stargardt’s cases worldwide and finalise a process for testing the effects of mutations. Ultimately the diagnosis of people with an ABCA4 mutation will be improved, and the identification of those suitable for participation in future clinical trials made easier.

Modelling effects of TIMP-3 mutations in RPE – insights into Sorsby Fundus dystrophy and night blindness in retinal dystrophies
Project start date: November 2017

This project aims to explore how changes in a protein called TIMP-3 damage the retinal pigment epithelium (RPE), leading to Sorsby Fundus dystrophy. The team will also look at whether gene editing technology might be a viable treatment for the condition.

Non-viral gene therapy using S/MAR vectors for Usher syndrome
Project start date: January 2018

This project explores an alternative to traditional gene therapy, which may have implications for a wide range of inherited retinal dystrophies, not just Usher syndrome. S/MAR vectors have the capacity to hold much larger genes, and they have no viral components. The team will explore whether this new approach represents a safe and effective future treatment option.

We have made a commitment to support the talented research teams who are delivering these ground-breaking projects. We will be continuing to raise the funds required over the coming months and years, and you can help us by making a donation now. We are extremely grateful for each and every contribution we receive.



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