Professor Cecily Kelleher chairs new group developing national rare disease plan for Ireland

Posted 11 December 2023

(opens in a new window)Professor Cecily Kelleher has been appointed as chair of the newly established National Rare Disease Steering Group, a panel of experts tasked with formulating a plan for the management of rare diseases in Ireland.

The body will develop a new Rare Disease Plan that sets out the vision for the country’s rare disease services, including the actions required to achieve this.

“We will be considering how best to improve access and address gaps in Rare Disease services and to promote awareness among healthcare professionals and the public, employing International best practice and top-quality available research,” said Professor Kellecher, College Principal at the UCD College of Health and Agricultural Sciences.

“Most important, I believe, is the planned consultative patient forum to facilitate patient input and engagement in all stages of the process."

A rare disease is defined in Europe as a disease having a prevalence of fewer than 5 cases for every 10,000 persons. There are currently up to 8,000 described rare diseases. 

Collectively, these diseases affect around 6% of the population, accounting for an estimated 300,000 individuals in Ireland.

The new Steering Group aims to address Rare Disease service gaps to ensure patients receive timely and accessible care. 

It will also consider how best to integrate the European Reference Networks into the national health, as well as identify the core practical requirements of a Rare Disease Registry.

Assessing how best to promote awareness and research around rare diseases will also be a key area for the body.

Ahead of the group’s inaugural meeting, Minister for Health Stephen Donnelly said: “I think all of us fully appreciate how devastating a diagnosis of a rare disease can be for patients, families, and carers, and I believe that there is cross-party support for doing everything we can to help patients who live with these conditions on a daily basis. 

“Central to the development of a new Plan will be patients and carers impacted by rare diseases in Ireland and, as such, a Patient Forum is also being established in the coming weeks to ensure the voices of patients and families remain central to the development of this policy.” 

Welcoming the announcement, the Chief Medical Officer, Professor Breda Smyth, added: “The development of a successor Plan will allow us to consider innovations in diagnostics, genetics, and treatments that need to be further considered and progressed, while looking to the future needs of patients and families living with a rare disease diagnosis. 

“I am delighted to welcome Profess Cecily Kelleher as Chair of the Rare Disease Steering Group. Today marks the inaugural meeting of this very important group and I look forward to working with members over the coming months to ensure that we deliver a plan that meets the need of all those impacted by a rare disease in Ireland.”

By: David Kearns, Digital Journalist / Media Officer, UCD University Relations

To contact the UCD News & Content Team, email: newsdesk@ucd.ie