Dr. Avril Kennan:

I wish to pick up on Deputy Billy Kelleher's point about research and whether any progress has been made in collaboration. I was a researcher on the genetics of rare diseases for many years. I now work with the patient advocacy organisation DEBRA Ireland. My worry about research is that it will be perceived as a luxury in the context of the national plan. Within the current constraints, it is easy to focus on the more immediate aspects, which are so important. However, to perceive research as a stand-alone item is to perceive it in the wrong way because it is integral to every single aspect of the plan. Obviously, the developments made in understanding the genetics underlying rare conditions have been an absolutely essential element in making progress towards a diagnosis, but there are still many rare diseases of which the underlying causes are not known. There still are people who never receive a diagnosis. Consequently, there is a great deal of work to be done from that perspective.

It also relates to looking at current supports for patients. The best way to do this is to have an evidence-based way in which one analyses carefully how patients are interacting with health services, as well as the quality-of-life issues for them. Then, of course, there is the one thing about which we all think, namely, a cure and therapies, which are essential. We have made great progress for some, but for others, we still are a very long way off. However, in the case of those conditions where we are a long way off, we cannot underestimate the hope factor. I always think it must be such a dark place for anybody living with a rare disease to know that there is nobody who is interested in his or her condition or in doing something to try to progress treatments. We still have a long way to go in terms of collaboration. Some progress has been made recently and there is a strong centre in UCD, for instance. However, we must take a number of steps to improve matters, one of the main ones being facilitating research within the health service, but we have not been very good at this in Ireland. As Dr. John Devlin mentioned, we need to conduct research within the centres of expertise because, apart from anything else, this has been shown to improve patient care.

One recommendation made in the national plan is to establish a network of rare disease researchers, to which consideration must be given. As everyone has noted, the national office will not have the capability to do this in the short term, yet forming networks would open the door to European Union funding. There are actually reasonable amounts of European Union funding available for research into rare diseases, but we must ensure our researchers are ready to take advantage of it. In addition, we must ensure that under the new strategy for science, technology and innovation, our funding agencies will have the capacity to fund research into rare diseases because in recent times it has been very challenging to obtain funding for research at the more basic end of the spectrum. I would greatly like to see a research representative on the proposed implementation plan oversight committee for the national plan.