Dáil Éireann Debate, Tuesday - 4 November 2014
633. Deputy Joe Higgins asked the Minister for Health the research the State is funding and-or collaborating with other states into Gaucher's disease; and if he will report on research the State funds into other rare genetic conditions. [41228/14]
View answer634. Deputy Joe Higgins asked the Minister for Health the steps that are being taken to enable screening of Gaucher's disease and other rare genetic conditions; and if he will make a statement on the matter. [41229/14]
View answerI propose to take Questions Nos. 633 and 634 together.
Last July, my department published a national plan for rare diseases. This was published in the context of an estimate that there are between 5,000 and 8,000 rare diseases whose specificities are a limited number of patients and a scarcity of relevant knowledge and expertise.
In general, the prospect of initiating a screening programme for rare diseases with ultra-low prevalence rates appear remote. In this vein, it is reported that Gaucher disease occurs in 1 in 50,000 to 100,000 people in the general population. This does not militate though against the HSE National Clinical Programme for Rare Diseases - established in the wake of the recommendations of our national plan for rare diseases - weighing the costs, benefits and efficacy of various screening programmes to the general population. Indeed, the national plan declared that the newborn stage is one of the key points in the lifecycle at which the possible presence of a rare disease may be indicated. Newborn screening is now carried out for a total of six conditions.
The Health Research Board (HRB) is the lead agency in Ireland supporting and funding health research. It has developed a mechanism whereby it can support excellent research into rare diseases and disorders. This is through a co-funding arrangement with the Medical Research Charities Group (MRCG), an umbrella group of medical research and patient support charities in Ireland. Each year, the MRCG invites proposals for research in diseases and disorders of interest to its members and the HRB manages their evaluation rigorously. This partnership commits over €2 million in funding each year to this scheme. In addition, researchers may submit applications for funding for research on rare diseases through any of its other funding schemes.
The HRB has not received an application for funding for Gaucher Disease. Since 2005 though, the HRB has invested almost €4.5 million (current investments of almost €3.2 million) in research on understanding the underlying causes, diagnosis, treatment and management of a number of rare diseases. In addition, the European Commission is working with member states to prepare for the creation of European Reference Networks. These networks may be described as the networking of knowledge and expertise on rare diseases through teams of experts that could also serve as research and knowledge centres. This initiative is important given that countries may not have sufficient local expertise in many rare and ultra-rate diseases.
Finally, the national plan recommended the establishment of a National Rare Disease Office to, among other things, assist with and support research on rare diseases with various public partners.
