Establishment of National Rare Disease Steering Group

New plan will be launched in autumn 2024.

The Minister for Health has announced the establishment of the National Rare Disease Steering Group.

The Steering Group have been tasked with developing a new Rare Disease Plan for Ireland that sets out the vision for Rare Disease services in Ireland and the actions required to achieve this.

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 Plan will seek to:

- Address gaps in Rare Disease services and ensure that patients and their families receive the right care, at the right time, in the right place.

- Consider how best to integrate European Reference Networks into the national health service.

- Identify the core practical requirements of a Rare Disease Registry.

- Consider how to best promote rare disease awareness among healthcare professionals and the public.

- Consider how to best promote participation in national and international research.

Speaking ahead of the inaugural meeting, Minister Donnelly, said: “On Rare Disease Day in February, I announced my intention to develop a revised National Rare Disease Plan, in line with the commitment in the Programme for Government. I am delighted that this important work has now commenced and that a Steering Group has today been convened to deliver on this important work.

“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, said: “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.”

The Steering Group will be chaired by Professor Cecily Kelleher. Professor Kelleher is Chair of Public Health Medicine & Epidemiology at UCD and is currently also Dean of the Faculty of Public Health Medicine at RCPI. She is chair of the board of the UCD Charles Institute of Dermatology. Previous research included Lead Principal Investigator of the All-Ireland Traveller Health Study and all rounds of the WHO Childhood Obesity Surveillance Study in the Republic of Ireland. She also served as Chair of the COVID-19 Nursing Homes Expert Panel which reported to the Minister for Health in 2020 and as a member of the Public Health Reform Expert Advisory Group, whose report was published in 2023.

Professor Kelleher added: “I am delighted to be asked to serve on this new steering group tasked to develop a National Rare Disease strategy and associated action plan for the Chief Medical Officer, Professor Breda Smyth and Minister for Health Stephen Donnelly. 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. Most important, I believe, is the planned consultative patient forum to facilitate patient input and engagement in all stages of the process."

The Steering Group contains a diverse membership from patient advocates, clinicians, the Health Service Executive (HSE), the Department of Health, and the Department of Children, Equality, Disability, Integration and Youth (DCEDIY). The Steering Group will develop a new Plan that is ambitious in its goals while also ensuring that all aspects of the plan are implementable to have the greatest impact on patients and families with a rare disease diagnosis in Ireland.

It is expected that the new plan will be launched in autumn 2024.