Day 5 RI Congress trip to Helsinki

By davidhead

Today was the first of two days of the main Congress, a meeting of about 400 people spread over several plenary and smaller sessions.

Stephen Jones and myself attended a number of sessions with a focus on the science (as opposed to some that were run for patients and on accessibility and so on). This was because our expected priority is helping to fund the ‘what next?’ for Prof Robin Ali’s work and we wanted to understand as much of the broader research context as possible.

As mentioned in a previous posting, Stephen will be producing a full report on the science for the RP Fighting Blindness main newsletter, these are just a few key points:

Session 1 Prof. Alan Bird

Prof. Bird put the event into context for the audience by speaking a little about the history of retinal dystrophy research, and about the stage we have reached in some key areas. This was useful to me, because though not new material he made many links between various projects and painted the international picture.

Session 2 Clinical Diagnosis

Yes, I have to admit I was daunted by the title, but it was not as technical as it sounded. Useful presentations helped me understand some of the symptoms of RP and MD in more details, and some of the difficulties faced by the medics unravelling these to come to a clear diagnosis. There was, of course, referral to genetic testing as well and to the next session. Prof Ruth Riise from Norway, a leading expert on RP syndromes, presented her subject really well and I feel better informed on topics such as Ushers, Alstom, BBS and others. Other speakers discussed Stargardt disease, LCA, and diagnosis of more archetypal RP.

Session 3 Genetic Diagnosis

Dr Andreas Gal started by explaining to a very mixed level audience some of the key facts about how genes pass information from parents to children, genetic disease in general, and our understanding so far of the gene flaws that cause retinal dystrophy. This was followed by a more detailed presentation on genetic testing and genetic counselling in Finland, which though was interesting didn’t really help us in thinking about how access to this type of service might be improved in the UK.

Prof. John Flannery from the UK then introduced the concept of using alternative means to make ganglion cells in the retina respond to light. Thought this diverted from the title of Session 3 it was fascinating – work is underway to try and effectively shortcut the usual function of the photoreceptors (rods and cones) that have died or failed due to RP, by using some very advanced techniques to make the ganglion cells (usually the next in line to receive the signal from the photoreceptors) photosensitive themselves. I intend to learn more about this proposed technique which to me as a layman seems to ‘make sense’.

Session 4 Future Treatments

Chaired by Prof Bird, this plenary session was used to update the audience on retinal implants, stem cell research, the practicalities of approving and running clinical trials, and (not related to our work) Age Related Macular Degeneration research. Again, this is not the place to report details, but to me the apparent successful implantation of retina chips was the highlight of this session. The Argus II implant trails that I wrote about back in May are underway, and we were informed that all the surgery had been completed without any drawbacks or problems. We also had the chance to learn more about what the earlier Argus implant, which only uses a grid of four electrodes, had done for the patients involved. Even this very crude set of four ‘dots’ has enabled patients previously blind for years – in fact decades – to locate a doorway, identify the difference between a knife, cup, and plate, identify direction of movement of symbols and lines, and so on. The new implant has a grid of 60 (6 x 10) electrodes so the prospects for significant advances over the next few months are very good indeed.

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