Rare disease research must be prioritised, conference hears

Medical group says research needed immediately to avoid disruption to health service

Nine-year-old Karl Swaine from Lucan, Dublin, has Hunter syndrome, a rare degenerative genetic disorder that prevents his body from breaking down sugar molecules. There are only about 2,000 cases of the disorder worldwide.


Charities and medical researchers have called on the Government to prioritise investment in research into rare diseases, which may affect up to 300,000 children and adults in Ireland.

Philip Watt, chairman of the Medical Research Charities Group, told a conference in Dublin on Tuesday that if such research was not undertaken now, vital health services would be disrupted.

Waiting lists for clinical genetic services in Ireland were growing, delaying many families from accessing diagnosis, counselling and treatment, he said.

“This is taking place against a backdrop of a major review of clinical genetic services having been undertaken two years ago, but which remains unpublished.

“Indeed, there is scarcely mention of clinical genetic services in the HSE service plan for 2017. The National Rare Disease Office was established over 18 months ago to address areas such as rare disease information, rare disease care pathways and patient registries. However, it has not been afforded nearly the necessary funding and resources to do its job effectively. The Government and HSE need to prioritise this service as a matter of urgency,” he said.

Brexit impact

Mr Watt also said there had been virtually no focus on the impact of Britain’s exit from the EU on our health systems. North/South co-operation in this area was of increasing importance for particular conditions in Ireland, including rare diseases.

He called on the Ministers for Health in the Republic and in Northern Ireland to immediately commission reports on the possible impact of Brexit for health services.

The conference at the Royal Hospital Kilmainham is being held to mark Rare Disease Day and is being attended by policymakers, scientists and researchers, and people with rare conditions.

The event heard there were than 1,400 people on waiting lists for genetic consultants at end of January - almost one in six for of them more than 18 months.

One in 12 people affected

It was opened by adventurer Mark Pollock, who was paralysed in a fall but who is collaborating with researchers on a project that is helping him to walk with the aid of a robotic exoskeleton.

It is estimated that there are over 6,000 rare diseases in existence worldwide and that they affect 6-8 per cent of the population of Ireland - up to 300,000 children and adults.

This means that one person in 12 in Ireland may have a rare disease, with 70-80 per cent of rare diseases being of genetic origin.

According to the National Treatment Purchase Fund, there were 1,412 patients on out-patient waiting lists for clinical genetic consultants at Our Lady’s Children’s Hospital Crumlin and Temple Street Children’s University Hospital at the end of last month.

Consultant respiratory physician Prof Gerry McElvaney, said we needed to review how we assess innovative new therapies for drug reimbursement in Ireland.


“There is a problem with how we assess reimbursement for new therapies in this country. It could be argued that we should not be assessing the effectiveness of therapies that have already been reviewed, deemed effective and licensed by the European Medicines Agency,” he said.

“The costs of studying rare disease is high and sometimes more substantive patient improvement can only be seen after many years. In this regard, it is not unreasonable for Government to insist that in return for giving the green light to fund such therapies on behalf of patients, that they be subject to ongoing evaluation and that reimbursement be withdrawn if the results don’t continue to stand scrutiny.”

He said more involvement of patient groups in the assessment process should be encouraged.

The conference is organised by the Medical Research Charities Group (MRCG), the Irish Platform for Patient Organisations, Science and Industry (IPPOSI), the Genetic and Rare Disorders Organisation (GRDO), and the Northern Ireland Rare Disease Partnership.