Webinar: hereditary eye diseases

On April 15, 2024, a free knowledge-sharing webinar was hosted by Prof. dr. Camiel Boon (Professor Ophthamology at Amsterdam UMC ), Prof. dr. Arthur Bergen (professor in the Human Genetics of Eye Diseases at Amsterdam UMC) and dr. Jessica Karuntu (researcher at LUMC). This webinar was organized by the Eye Research Society with the aim of sharing knowledge about hereditary eye diseases like Retinitis Pigmentsoa (RP) and Macular Degeneration and the development of new treatments.

The recording of the webinar can be viewed here:

We received many questions prior to the webinar. Many of these questions were answered during the webinar. Below, Prof. dr. Camiel Boon answers some interesting open questions.

Q: I am 75 years. Will I ever be too old to be offered a place in an IRD trial?
A: In principle, you are never too old to receive a treatment that is personalized, although many clinical trials have an upper age limit that is below 75 years
   
Q: Do children inherit exactly what their parent has?
A: A risk of inheritance of the disease depends on the genetic cause and mode of inheritance. For example, in autosomal recessively inherited disease, both copies of the gene have to be affected to get the disease, and the risk of the next generation getting the disease is therefore very small (less than 1%) in an non-inbred population. In autosomal dominant disease, a single affected gene is enough to get the disease, and children have a 50% chance to inherit the gene and get the disease.
   
Q: Can we expect an acceleration through AI?
A: AI may help us to select the right patients for the right studies and treatments, and can help in analysis of disease stage and progression in the clinic. However, little is known and done in these rare inherited retinal diseases. At Amsterdam UMC, AI research in these diseases is one of the key topics that we focus on to bring this field forward.
   
Q: Can you tell something about Sepofarsen/Ultravursen what has been sold to Théa/Sepul Bio?
A: The company is apparently planning to restart the CEP290 gene RNA therapy trial, and possibly also the USH2A gene trial, but this is currently unclear.

During the webinar financial resources were discussed to make groundbreaking research possible. We would like to state following about this.

Relatively small amounts of funding can often function as an accelerator and catalyzing stimulus to much bigger research (and funding). For example, if a researchers are able to collect some key research findings in a pilot study based on a small funding amount, these results can be very important to submit a potentially successful large application for larger funding. Philanthropic money and donations are often a great driving force for such research: all major breakthroughs start small. These small breakthroughs that spark great developments are often experimental, innovative research that is difficult to finance from regular, established funding sources. Our researchers at Amsterdam UMC experience this personally every day. That is why initiatives such as OOG are such important driving forces behind breakthroughs.