National Rare Diseases Office opens in Dublin

Mater Hospital facility will focus on diagnosis, research and testing

Minister for Health Leo Varadkar opened the National Rare Diseases Office. Photograph: Collins

Minister for Health Leo Varadkar opened the National Rare Diseases Office. Photograph: Collins

 

A new National Rare Diseases Office will help to identify thousands of rare diseases that affect almost 250,000 people in Ireland.

The office in Dublin’s Mater Hospital was opened on Thursday morning by Minister for Health Leo Varadkar. It will focus on identifying rare diseases and carrying out research, genetic testing and psychosocial care.

A helpline for patients and clinicians - to provide information about rare diseases - is expected to be operational this autumn.

Speaking at the opening, Mr Varadkar said: “This is a significant day for the management of rare diseases in Ireland.

“A very large number of diseases are classed as rare, somewhere between 5,000 and 8,000, but they affect millions of people across Europe.

“We know that people living with a rare disease and their families, especially parents of young children, are often the leading experts in their diseases. It’s important that we recognise this and provide the necessary supports,” the Minister said.

“I see this new office becoming a focal point for rare diseases, building up information and expertise on treatment and services, nationally and internationally.”

Cystic Fibrosis Ireland chief executive Philip Watt said: “We hope that someday this will be viewed as an important stepping stone in the long and often desperate journey for equal rights for people with rare diseases in Ireland.”

European portal Orphanet, the primary source of information on rare diseases worldwide, is now also accessible in Ireland as part of the National Clinical Programme for Rare Diseases .

A rare disease is defined in the EU as a life-threatening or chronically debilitating disease, such as haemophilia or muscular dystrophy. It is estimated there are 6,000 known rare diseases and that up to 6 per cent of the population will develop a rare disease.

Mr Varadkar was asked about the annual Medical Council Report released on Thursday morning that showed just half of trainee doctors in Ireland plan on practicing in the country.

The Minister said he believed the most striking aspect of the report is there are now more doctors registered in Ireland than in the past ten years.

“What is does show is that a lot of doctors are migrating, but it also does show that a lot of them plan to come back as well. I think now with pay restoration happening, hours getting shorter and training conditions improving, we’ll continue to see the number of doctors in Ireland rise.”