Dr. Seán Ennis:

I am the director of the recently established UCD Academic Centre on Rare Diseases, ACoRD. I thank the committee for the opportunity to appear before it, and it is an honour for me as a scientist and the interdisciplinary group I represent. I commend the interest shown by the committee in rare diseases.

My message is simple. It is that research into the genetic causes of rare diseases works. What we can achieve in studying a single rare disease today was considered a lifetime achievement only three to five years ago, and this is mainly due to the revolution in genomics and genetic technology and the ability to be able to apply this to any rare disease. Our focus is on rare genetic diseases, particularly those affecting the Irish and Irish Traveller population. We have tried to identify a mutation causing the disease - a spelling mistake in the DNA - and we try to develop diagnostic tests, which are passed to our partners, the National Centre for Medical Genetics, to validate and implement these tests. Once we implicate a gene, we try to build a picture of what is going on, and this knowledge can have an impact on patient management and improve health care for the patient. Our ultimate aim is to investigate conditions which may be amenable to drug targeting or gene therapy. Currently, patient symptoms are treated rather than the cause of a rare disease, with limited treatment options available. Rare diseases take a disproportionate amount of the current health budget.

In my submission I have highlighted three success stories to illustrate the potential power for rare disease research. The story of children born with no eyes was our first major breakthrough using current technology, and we identified the "spelling mistake", as it was, in a gene involved in transporting vitamin A into cells at the right time for the support of eye development. The second story is one concerning a pigmentation infection disorder, and this was originally thought to be three separate syndromes. The "spelling mistake" affected two different genes. The third story - the LARS story - concerned what was thought to be an error in what we call the battery packs of body cells but it turned out to be a life-threatening infantile liver failure disease.

What is the impact of these findings? We have developed diagnostic genetic tests and next month will see the formal introduction by the National Centre for Medical Genetics of those tests, with the conditions added to the testing panel. With regard to impact on patient management, accurate carrier testing and genetic counselling can be offered to individuals, and there is a psychological benefit for patients just having a diagnosis. A simple DNA test now avoids hazardous and invasive procedures in children. Earlier diagnosis allows earlier treatment and it often delays onset of a condition, reducing time to diagnosis. In some instances we can personalise treatment and heighten awareness. This type of work allows new insights into the mechanism of disease and the potential for new targets or therapeutics. It also adds important diagnostic criteria, often with the rare disease informing a broader issue. Like putting a man on the moon or sending a rocket to Mars, we are working with colleagues around the world and we have a set an aim to drive the field. We wish to put in place by 2020 a genetic test for all the known 7,000 rare diseases, and to develop therapies for 200 of these diseases.

I recommend that the committee consider this approach highly effective and will be of increasing importance in the coming years, with national expertise existing in this arena and making a contribution to Ireland's rare disease burden. I urge the committee to be brave in long-term planning and consider the widespread implementation of genomics in rare disease and personalised medicine. I also highlight the importance of basic biomedical research.

Not all scientific advancement can be measured in purely economic terms. I ask members to consider that basic biomedical research should be considered equal to enterprise-focused research. I wish to highlight the importance of patient bio-banks. DNA bio-banks and collections should be a routine feature of clinical care for all newborns. These collections should be made available using the proper constraints to the research community, not just in respect of rare diseases but common ones also.

In regard to the National Centre for Medical Genetics, I note that we will not have world-class health service without a well-resourced, truly national genetic diagnostic service.