Welcome to the GDRO website

The Genetic and Rare Disorders Organisation (GRDO) is a non governmental organisation acting as a national alliance for voluntary groups representing the views and concerns of people affected by or at risk of developing genetic or other rare disorders. Read more ...
National Rare Disease Plan New NRDO Site National Rare Disease Office Microsite Link

Save the Date

Monday February 29th Rare Disease Conference in Dublin Castle: further details will follow.

Launch of new website for Rare Disease Day 2016!

Rare Disease Day 2016 will take place on the 29 February 2016, a rare day in itself! The main objective of the Day is to raise awareness of rare diseases and the impact they have on people's lives.

Take a look at the new RareDiseaseDay.org website!

2016 marks the 9th edition of this patient-driven movement. Thousands of events will take place across all continents, reaching people living with a rare disease and their families around the world.

EURORDIS, together with a network of 37 national alliances of patient organisations, calls on patients, families, patient organisations, carers, healthcare professionals, decision makers, industry, researchers and anyone with an interest in rare diseases to help put rare diseases in the spotlight!

Learn more about the Rare Disease Day 2016 theme Patient Voice and slogan Join us in making the voice of rare diseases heard and find out how you can get involved in Rare Disease Day 2016.


The Angelman Syndrome Alliance (ASA) supports research on Angelman syndrome with up to 300 000 Euros to be awarded at the next International Angelman Syndrome Scientific Conference. The Angelman Syndrome Alliance is (currently) an initiative of the following parent organisations: AVO (Austria), ASB (Belgium), ASFA (France), Angelman e.V. (Germany), AIA (Ireland), Israeli Angelman Syndrome Foundation (Israel), ORSA (Italy), PWAV (Netherlands), Angel (Portugal), ASSERT (United Kingdom), and the Nina Foundation (consortium organization on AS science). Their mutual aim is to join forces and funds to increase the financial support of dedicated research projects and thereby intensify research on Angelman Syndrome.

Call for Applications for Research Grants on Angelman Syndrome

Call will be open between the 25th November 2015 and the 24th of January 2016

For More Details and Application process here

DFI Election Campaign - Disable Inequality

With General Election 2016 fast approaching, now is the time for people with disabilities and their families to get active on issues that affect them. We need people with disabilities voices to be heard nationwide in the various debates around the 2016 General election. This is not only because 1 in 8 Irish people have a disability but, more importantly, because they are deeply affected by so many of the issues at the heart of political debate. Disability Federation of Ireland are encouraging you to support and get involved with their election campaign, ‘Disable Inequality’. The campaign is all about YOU, and YOUR story of living with a disability. Election 2016 is an opportunity to create a fairer and more inclusive society where people with disabilities are treated on par with other Irish citizens.


• DFI are seeking people with disabilities and their families to share their own experiences. By telling your own story we can highlight the everyday difficulties and challenges that people with disabilities encounter throughout Ireland. Your story can be submitted in any format, it could be a photograph, a tweet, a video, text, a Facebook post. This doesn’t have to be a long story you could tell your story in 3-5 sentences just be sharing who you are, an issue you want to raise and posing the question ’Does that seem fair to you?’ You can find more information on the website www.disableinequality.ie

• We need to promote the Disable Inequality message as wide as we can. You can do this by liking and sharing the website www.disableinequality.ie. Please share on Facebook, Twitter and too as many people as you can.

• DFI are launching the ‘Disable Inequality’ campaign in early January and want as many people as possible to attend. The more people that attend the launch, the louder the voice of people with disabilities leading into the election. If you would like to attend please contact Jacqueline at jacquelinegrogan@disability-federation.ie

By working together and building the voice of people with disabilities in Ireland we have a real chance to bring about change in 2016. Together we can #disableinequality!

Disable Inequality

GRDO are supporting this campaign because rare diseases are significant as a cause in sensory, physical and intellectual disabilities. One story at a time, Disable Inequality is making equality a defining issue in Election 2016. More than 600,000 people are living with a disability in Ireland. Two in three of us know or care for an immediate family member, a friend or a neighbour living with a disability. Disability is the biggest issue of our time. But, it does not receive the political leadership, attention and commitment needed to make Ireland a truly modern, truly equal Republic. Taking a bus, enrolling in school, finding a job, going to a gig, keeping warm: Almost everything is more difficult and has more barriers if you are living with a disability. Does that seem fair to you? In the coming weeks, we will be collecting stories of inequality – your stories –from across the country. We will use this volume of evidence to show political leaders and your candidates that it is time to end discrimination against people living with disability. Together we will make Ireland a fairer place to live and make disability a priority in the new Programme for Government.

Visit website and join the campaign for a fairer and more equitable Ireland

Rare Diseases Website Developing the Parent-to Parent content of a Rare Disease Website in Ireland (RD-WEB P2PS)

In 2014 parents participated in a previous study examining the development for the first Irish website for parents of children with rare conditions. A compelling finding from that study was parents’ need for a live parent-to-parent support feature to be included in the proposed development of any website. Building on this, this study that was funded by the Irish Research Council and in collaboration with the Saoirse Foundation, investigated with parents’ the idea of a live parent-to-parent support feature. The two studies are timely and coincide with the National Rare Disease Plan (DoH 2014) and the establishment of the National Rare Diseases Office (2015). Read More....

An exploratory study to further explicate parents’ requirements to effectively provide parent-to-parent support on an Irish website for parents of children with rare conditions Read Study here

The Rare Disease Day 2016 theme and slogan: Patient Voice - Join us in making the voice of rare diseases heard - On 29 February 2016

2016 marks the ninth year that the international rare disease community celebrates Rare Disease Day. On 29 February 2016, people living with or affected by a rare disease, patient organisations, politicians, carers, medical professionals, researchers and industry will come together in solidarity to raise awareness of rare diseases....Read more

eHealth Ireland

Bringing improved population wellbeing, health service efficiencies and economic opportunity through the use of technology enabled solutions...website


The portal for rare diseases and orphan drugs. Link to Ireland’s orphanet page with contact details....website

EURORDIS is offering patient fellowships for 40 patient Advocates

EURORDIS is offering patient fellowships for up to 40 patients’ advocates to attend the 8th European Conference on Rare Diseases & Orphan Products (ECRD 2016) taking place 26-28 May 2016 in Edinburgh, UK.These fellowships aim at empowering patients’ advocates by offering a platform for networking opportunities, access to information and sharing experiences...Patient Advocates Fellowship Programme

Wiring the Brain

Genome-wide association studies (GWAS) have been highly successful at linking genetic variation in hundreds of genes to an ever-growing number of traits or diseases. The fact that the genes implicated fit with the known biology for many of these traits or disorders strongly suggests (effectively proves, really) that the findings from GWAS are “real” – they reflect some real biological involvement of those genes in those diseases. (For example, GWAS have implicated skeletal genes in height, immune genes in immune disorders, and neurodevelopmental genes in schizophrenia) ...read more

Rare Disease Day social media webinar hosted by Robert Pleticha

On 25th November at 16:00 (15:00 GMT), there will be an exclusive Rare Disease Day social media webinar hosted by Robert Pleticha, RareConnect Project Manager at EURORDIS. Watch this event if you want to know all the best hints and tips of how to use Facebook and Twitter to activate your community and build excitement for your event.

More information here

Orphanet Ireland is now hosted by the National Rare Disease Office

Orphanet Ireland is now hosted by the National Rare Disease Office, located at the Mater Misericordiae Hospital, Eccles Street, Dublin 7. .
More information here
If you have a query about registering your activity (expert centre, patient support group or research) on Orphanet, please contact us :Here

Health Minister Simon Hamilton has announced £3.3million investment to create a Northern Ireland Genomics Medicine Centre (NIGMC) that will provide rare disease patients with a much earlier and more accurate diagnosis

Thursday, 29 October 2015

More information here

The GRDO AGM will take place on Monday 19th, October 3.30 – 5pm at the offices of Fighting Blindness, 3rd Floor, 7 Ely Place St Stephen’s Green

The landscape in relation to genetic and rare disorders is a fast-changing one and of increasing importance in Ireland where the level of awareness and knowledge of rare diseases and the medical and social needs of the rare disease community remain at a critically low level.

With the publication last year of the National Rare Disease Plan for Ireland 2014-2018 and the opening this year of the National Office for Rare Diseases GRDO’s continuing work in this area will focus on implementation of the national plan. It is our belief that individual patients and patient groups can play an important role in achieving the aims and objectives of the plan as outlined in its 48 recommendations and working in collaboration with other stakeholders we can together effect real and lasting change for all those affected by rare and genetic disorders living in Ireland.

GRDO would encourage everyone to familiarise themselves with the plan and bring it to the awareness and attention of your local TD’s and political representatives especially in the run up to the general election. The publication of the plan and the opening of the RD office whilst encouraging by no means guarantees that the recommendations will be implemented. Those of us in the rare disease community need to give our full support to the individuals and organisations that continue to work tirelessly for much needed change in this area.

The link to the National Rare Disease Plan is here and some information on Europlan II Ireland can be found here
Further information / policies on rare disease can be found here
Application for GRDO membership can be found here...... download form

It is with great sadness that GRDO Ireland has learned of the untimely passing of the CEO of MDI Joe T Mooney.

GRDO would like to express sincere sympathies to Joe's family, friends and colleagues in MDI and the wider disability community GRDO. He was a loyal and valued friend who worked tirelessly for the members of Muscular Dystrophy Ireland and someone whose advocacy efforts reached far beyond his own members. He will be sadly missed by many.
A book of condolences has been opened at Muscular Dystrophy Ireland Head Office at 75 Lucan Road, Chapelizod, Dublin 20, for those who wish to pay their own personal tributes.

EUROPLAN II - Dublin, Sept 7th 2015

This event, hosted by IPPOSI, GRDO and MRCG focused on the challenges experienced to date on the implementation of the Irish National Rare Disease Plan (2014-2018) and on how the plan elements can be turned into a reality that positively impacts on the lives of people living with a rare disease.
More Information here.

Launch of Rare Diseases International, the Global Voice for Rare Disease Patients

More information here

National Rare Disease Office launched

More information here

Genetics in Modern Medicine – the Future is Now. Kevin Mitchell

“The effects of genetic mutations are not restricted to what we typically think of as rare disorders, however. Discoveries over the last several years are illustrating their central role in much more common disorders, such as epilepsy, autism, schizophrenia, Alzheimer’s and Parkinson’s disease, many cancers and other conditions. Indeed, many of those diagnostic categories may in fact be umbrella terms for a multiplicity of rare disorders that manifest with similar symptoms.”

More information here

Duchenne Muscular Dystrophy– Finding Solutions in Ireland : Join Our Boys

Wednesday, 24 June 2015 from 09:00 to 17:00 (IST)
Dublin 3, Ireland.
Register here

May 15th 2015 is TSC Global awareness day.

On this day we will officially launch TSC Ireland and our TSC Ireland website. To mark this occasion, we would like to extend an invitation to all patients, parents, families and carers affected by Tuberous Sclerosis Complex, to a meeting in Trinity College, Dublin. We are delighted have three speakers, each of whom has considerable expertise in TSC.e

The meeting will be chaired by Dr Colin Doherty, consultant neurologist in St. James’ hospital, Dublin. Dr Doherty is already involved in research involving Tuberous Sclerosis Complex in Ireland. The title of Dr Elizabeth Thiele’s talk is “Living with Tuberous Sclerosis Complex (TSC)” The title of Dr Chris Kingswoods’s talk is “Care for today, Hope for tomorrow” The meeting will be held in The Stanley Quek Theatre, Trinity Biomedical Sciences Institute, 152-160 Pearse Street, Dublin 2, from 2pm to 4pm on Friday May 15th.
Please see attached webpage for details and biographies of the speakers.
Unfortunately we are not in a position to offer crèche or child minding facilities at this meeting, but we do hope to arrange a family day over the coming months. If you have any queries please email tscireland@outlook.com We look forward to seeing as many people as can make it.

Wednesday 20th May is International Clinical Trials Day

and to mark this day St. James’s Hospital Dublin have extended an invitation (from 10 am to 12 pm) aimed towards the public and patients. Then in the afternoon (from 1 pm to 3 pm) they will host an open house in the Clinical Research Facility. If you are able to attend this open day please confirm by email to: burdzana@tcd.ie or by phone to Anna on 01-4103900 by 10th May 20th. If you have any questions please contact do not hesitate to contact Derval: reidyde@tcd.ie

Ireland's first National Rare Disease Office (NRDO)

is expected to open officially in a number of months, the HSE has stated. Addressing the Joint Oireachtas Health Committee on rare diseases in Ireland, Helen Byrne, Assistant National Director, Acute Hospitals Division, HSE, said that the NRDO would be based in the Mater Hospital in Dublin pending the establishment of the new National Children's Hospital, and it was hoped to open the office officially towards the end of the second quarter of this year.

More information here

EURODIS Membership Meeting 2015.

Each year, the EURORDIS Membership Meeting provides over 200 patients, patient organisations, policy makers and other stakeholders with networking opportunities and capacity-building workshops to improve the lives of those living with a rare disease. .
EURORDIS is a non-governmental patient-driven alliance of patient organisations representing 676 rare disease patient organisations in 63 countries. We are the voice of 30 million people affected by rare diseases throughout Europe

More information here

The Northern Ireland Rare Disease Partnership

IPPOSI, GRDO and others sat on a discussion panel at the Oireachtas Health Committee hearing on Rare Diseases yesterday. The full session is broken into three videos below, please note the first video takes a few minutes to begin, so hop forward to skip to the start of the public session.
Committee Chairman, Jerry Buttimer TD said: “Rare Disease Day is an annual, awareness-raising event co-ordinated by a non-governmental alliance of 614 rare disease patient organisations in 58 countries. Our meeting will enable Committee Members to get an in-depth briefing on the issue in Ireland from a range of voices on progress in implementation of the National Rare Disease Plan. We look forward to engaging with groups dealing with various rare diseases on key issues they face in terms of prevention, detection and treatment of rare diseases, access to medication and the identification of appropriate centres of expertise.”

Link to video

Watch and Share the Official Rare Disease Day 2015 Video!

Watch the Video

The Northern Ireland Rare Disease Partnership

The Northern Ireland Rare Disease Partnership is marking International Rare Disease Day 2015 with a unique joint event, celebrating the first ever World Birth Defects Day on 3 March 2015, in the beautiful surroundings of the Lough Erne Resort, County Fermanagh. This is part of our programme of bringing high quality learning events to people, across the whole of Northern Ireland; and we are very grateful for the Lough Erne Resort's willingness to assist us with this - an excellent example of partnership!

Link to site

Rare Disease Day 2015

Friday February 27th, 2015
10:30am – 12:00pm

Alexander Hotel

Rare Disease Day raises awareness amongst the general public and decision-makers about Rare Diseases and their impact on patients' lives. This event will look at the progress since the National Plan for Rare Disease was published in July 2014. It will also highlight the need for implementation of the National Plan

There will be teas/coffees at 10am and the speakers will start at 10.30am. It is expected to finish at approximately 12 noon. The full agenda for the morning is not yet finalised Eventbrite will be updated with this information as it becomes available.

Registration is required and can be done through the Eventbrite link here Registration

Sign up now to join the campaign to make 2019 European Year for Rare Diseases

Link to site.

Genetic Protection - Review of Part 4 of the Disability Act 2005

Part 4 of the Disability Act provides safeguards for the use of information obtained from genetic testing. The provisions aim to ensure that people who may be affected by genetic disorders will not be subject to any unreasonable requirements from an employer or an insurance or mortgage provider. The Act makes it an offence to ask for genetic test results.

Although information on genetic testing is prohibited, information on family history is currently being requested.

The National Disability Authority (NDA) has been requested to conduct a review of the operation of Part 4 of the Disability Act 2005 (Genetic Testing), by the Minister for Justice, Equality and Defence, as required under Section 44 of the Act. NDA are conducting this consultation to hear what people think about the operation of Part 4 of the Disability Act 2005 (Genetic Testing). Feedback will be used to inform the final report on the review.

The closing date for submitting comments is 11th November 2014 at 5pm.
  • You can email your consultation feedback to: genetictesting@nda.ie
  • You can post your consultation feedback to: Ruth O’Reilly, Part 4 Review Consultation, National Disability Authority, 25 Clyde Road, Dublin 4.
  • If you have any questions, you can contact Ruth O’Reilly by email at rcoreilly@nda.ie or by telephone at (01) 6080489

NDA’s Consultation Feedback Form is available here

GRDO will make a submission on behalf of our members. Please contact us if you have experienced discrimination so that we can strengthen our submission.

Genetic information leads to better treatments and outcomes for many genetic conditions. Adequate genetic protection is necessary to enable people to engage in research without fearing discrimination

If everyone had DNA testing there would be no one left to insure” Prof Patrick Morrison, Geneticist, Belfast

GRDO statement in reference to the National Center for Medical Genetics.

Since the establishment of NCMG in 1994 GRDO have consistently highlighted the need for a high quality, accessible, equitable national genetic service which should be resourced sufficiently to ensure it is sustainable and meets international best practice guidelines.

The Genetic & Rare Disorders Organisation (GRDO) represented the views of patients and service users in the recent review of the provision of genetic services in Ireland. GRDO highlighted two primary concerns 1) the impact of significant waiting times for genetic tests on patients and their families and 2) the impact a continued reduction in funding and resource has had on the day to day running of the NCMG resulting in unsustainable pressures on those providing the service.

GRDO is concerned that neither the Dept. of Health nor the HSE currently have a dedicated post in place to take responsibility for the provision and monitoring of national genetic services. In the UK, the Department of Health has an entire division to manage genetic services. This "invisibility" of genetics services at Department of Health and HSE level has resulted in a policy vacuum, a complete lack of planning and a gradual deterioration of the genetics services available to patients and their families. Successful implementation of The National Clinical Programme for Rare Diseases is dependent on a reliable national genetic service

Ireland has one of the lowest levels of clinical genetic consultants and genetic counsellors in Europe. There are only four consultants, or 1 per 1,150,000 people, compared to 1 consultant per 300,000 in Northern Ireland.

Waiting lists for Genetics services are unacceptably long. Children with developmental delays and those impacted by genetic heart conditions currently wait up to 18 months for necessary genetic services. Hereditary cancer clinics have 1 year waiting lists.

Genetic and rare diseases will affect approximately 300,000 Irish people in their lifetime and almost 40m in Europe. A well-resourced and funded Medical genetics service represents a vital component in any modern healthcare system. Recent developments in personalised therapies for unmet medical need can potentially treat, cure and prevent disease - yet Ireland lags seriously behind other member states in how this service is developed.

GRDO was not aware of any patient representative body that was consulted on development of an implementation plan and awaits its publication with interest.

Campaign for European Year for Rare Diseases 2019

In 2019, we will celebrate the 20 year anniversary of the adoption of the EU Regulation on Orphan Medicinal Products and the 10 year anniversary of the Commission Communication and Council Recommendation on rare diseases. The European Year will send a strong public and political message on behalf of the 30 million Europeans who suffer from a rare disease and will raise awareness and encourage researchers to focus on these rare, mostly unknown, seriously debilitating and often life-threatening diseases

More Information and Sign Up

Judy Windle

It is with great sadness that we share the news of the death on Sunday (August 24, 2014) of our dear friend and colleague, Judy Windle.

Julie Windle
Judy was originally involved primarily in the development of Muscular Dystrophy Ireland (MDI), through her son Mark who was affected, and who sadly passed away in 1980. Her role in MDI was inspirational to many other parents and family members who were facing similar challenges to hers. Taking this painful experience and channeling it to help others was a hallmark of Judy’s remarkably generous life story. In 1997 we were thrilled to see her work and dedication recognised as she was honoured with a Person of the Year award for courage and service to the community.

In 1988 she was involved in the foundation of the Genetics and Rare Disorders Organisation (GRDO) and she remained active as a board member with GRDO until her death. One of the legacies of her leadership within GRDO was the establishment of the National Centre for Medical Genetics based at Crumlin Hospital, a service which has impacted the lives of countless families who are living with rare diseases in Ireland. She was also instrumental in the production and planning of the Europlan Ireland initiative, a project designed by the European Organisation of Rare Diseases (EURORDIS) to assist European countries with the tools to develop and implement National Plans for Rare Diseases in each member state. This was a huge undertaking which Judy thoroughly believed in and it is wonderful that the National Plan for Ireland was accepted by the Irish government and published in July 2014, during Judy’s lifetime.

Her trojan work in the area of rare diseases and her personal attention and compassion for people who were facing diagnosis and the reality of living with challenging conditions, had an enormous impact on the many families with whom she came into contact. Anne Lawlor remembers the personal care and compassion that Judy showed to her when her daughter was diagnosed: “Judy was an inspiration to me and helped me to have faith in my own capacity as a mother caring for my own daughter with a rare condition. Her advice and support were invaluable to me and she was a true role model as I went on to establish a support group of my own for families dealing with the same condition as my daughter.”

To all who worked alongside her, Judy was a kind, supportive but strong and resourceful woman, who always put the needs and concerns of others at the root of what she did. Her dedication and determination to improve the lives of people affected by rare and genetic conditions will leave a lasting impact on many many people. We extend our heartfelt sympathies to her children Siobhan, Nicholas and Henry and to her wider family. Rest in Peace, Judy.



A good summary of the National Rare Disease Plan for Ireland by Paul Mulholland.

Plan Summary

Minister Reilly launches National Rare Disease Plan for Ireland 2014-2018

Plan Launch Release Article.
National Rare Disease Plan
Report of the Consultation for a National Rare Disease Plan for Ireland

Plan for Rare Diseases

GRDO are pleased to announce that Minister James Reilly will launch Ireland's first ever Plan for Rare Diseases @ 10.30 this coming Thursday, July 3rd in the Royal College of Physicians, Kildare Street. .

A number of stakeholders, both individuals and organisations have been involved in this process and working hard for a number of years to achieve this goal. It is said that a journey of a thousand miles begins with the first step, lots therefore has been done but lots more to do. The Irish Plan for Rare Diseases will require a budget to implement it's recommendations and this budget needs inclusion in the HSE service plan for 2015. Implementation of the Plan will take several more steps but in the meantime and on behalf of the 300,000 odd people in Ireland affected by a genetic / rare condition this is an occasion to celebrate.

Public Consultation on Medical Card Eligibility

Have your say on how medical need should be taken into account in the provision of medical cards.

More Information here. Closing date for submissions is Monday, June 30th, 2014.

Clinical Trials for Children

IPPOSI’s content partner for those sections dealing with clinical trials for children is The National Children’s Research Centre (NCRC) a charitable organisation and the largest paediatric research facility in the Republic of Ireland. It supports investigations into the cause, diagnosis, treatment and prevention of childhood illness and injury, through a series of research grants to principal investigators (senior doctors and scientists) and through an MD/PhD/MSc academic training programme. The NCRC is funded by the Children’s Medical Research Foundation (CMRF).

More Information here.
This website and the associated documents are part of an IPPOSI.campaign intended to advise the public about clinical trials.

The Genetic & Rare Disorders Organisation Welcomes the Decision by the CHMP to grant conditional approval of Ataluren for the treatment of Duchenne Muscular Dystrophy (DMD).

The Committee of Human Medicinal Products (CHMP) yesterday overturned a previous decision not to grant the Conditional Approval of the investigational new drug Ataluren for Duchenne muscular dystrophy.Following the ruling further consideration was given by the sponsor PTC and by the CHMP regarding data on the effects of Ataluren.

While acknowledging the difficult review process in the assessment of the data, Parent Projects Networks, European Association of Muscular Dystrophy Associations (EAMDA) and EURORDIS wrote to the CHMP seeking further discussion on the matter and appealing for a reversal of the decision. In particular these patient-led groups highlighted the high unmet medical need of patients with DMD,.This breakthrough therapy is the first treatment to be conditionally approved for this disease. Approximately 13% of cases of DMD are caused by what are known as non-sense mutations in the dystrophin gene which results in the premature synthesis of this essential protein. This innovative technology enables the formation of functioning protein and has the potential to be effective in large number of other rare diseases that are caused by non-sense mutations

The phase III study that is currently ongoing includes individuals with more advanced forms of the disease: this study will be crucial to confirm the effect already observed with Ataluren. The purpose of this study is to measure the size of the effect observed. It appears plausible that the effect is greater in patients with more advanced disease and that the effect in younger, patients who are ambulatory may take more time to become apparent in an interventional clinical trial.

The recruitment onto this trial is progressing well and is expected to be finalised by August 2014.. So far, 50% of patients have been recruited in Europe with the remainder outside Europe. There is a 48 week treatment period and these results are expected by end of 2015.

Avril Daly, Chair of GRDO, said, "Today is a very important day for the rare disease community and people living with rare diseases. The CHMP recommendation is a very good example of how informed patient groups can, where appropriate, advocate for better outcomes for patients with unmet needs".

Link to Press Release ...


The National Disability Strategy (NDS) is understood to provide a whole-of-Government approach to advancing social inclusion of people with disabilities. At its launch, it was noted that, in spite of challenging economic challenges, the National Disability Strategy Implementation Plan (NDSIP) had been developed to build on the progress that has been made to date and to advance Government’s commitment to improving the lives of people with disabilities.

The NDSIP is framed in the context of citizenship and participation and is organised around important rights for citizens with disabilities. All of the actions contained in the Plan are under the themes of

• equal citizens

• independence and choice

• participation and;

• maximise potential

The High Level Goals of the NDSIP are that people with disabilities are free from discrimination; are supported to live the life they choose; live ordinary lives in ordinary places, participating in the life of the community; and are enabled to reach their full potential. Each Goal has specific objectives and actions through which it will be achieved.
The NDSIP was developed by the National Disability Strategy Implementation Group (NDSIG), chaired by Minister Lynch, and comprising representatives from relevant government departments, and the Disability Stakeholder Group (DSG) [1].
Link to WebSite ...

Welcome to National Clinical Programme for Rare Diseases

A ‘rare disease’ is defined in Europe as a life-threatening or chronically debilitating disease affecting no more than 5 people per 10,000. There are an estimated 6-8,000 known rare diseases affecting up to 6% of the total EU population, (at least 30 million Europeans), and perhaps up to 300,000 Irish people during their lives.

Conditions such as Cystic Fibrosis, Haemophilia and PKU are familiar to many. There are many other rare and ultra-rare conditions. However, the biggest bulk of the presenting conditions are accounted for by about 350 conditions. Approximately 80% of these conditions are genetic and although a high proportion present in childhood, many also present for the first time in adulthood.

In Europe, it is recognized that accurate and timely diagnosis and access to treatment for individuals with rare diseases are severely hampered by a few major issues. These include lack of recognition and visibility in health care systems leading to difficulties in coordination and communication, the lack of national policies with limited and fragmented resources for individuals with rare diseases, with often the lack of specific clinical expertise for the condition in the specific country, and very highly fragmented clinical research leading to inefficient use of limited resources.

As part of the Irish Europlan 2011 Conference the first step of the national Rare Disease Plan public engagement process began. The primary concerns expressed by patients, families and the medical professionals were the prolonged and difficult diagnostic journey and the lack of information and lack ofawareness of rare diseases in the community. These difficulties were later reflected in the on line public consultation, ‘Have your say’(HSE 2012).

Link to Site ...

Opening Statement by Minister Reilly at the Joint Committee on Health and Children April 3rd 2014

Minister James Reilly opening statement to the Joint Committee on Health and Children included some promising news for those affected by rare and genetic conditions.

"You've asked that I address the issue of a national office for Rare Diseases. As this Committee is aware, Rare Diseases place a significant burden on patients and their families. The important work of developing the National Plan for Rare Diseases continues and is close to being finalised. This policy framework relates to the prevention, detection and treatment of rare diseases based on the principles of high quality care, equity and will be patient centred. The Plan will deal with the prevention, diagnosis and care of people with rare diseases; enhancing access to orphan drugs and technologies; responding to the needs of patients with rare diseases and their carers; and research into the area of rare diseases. My Department’s Steering Group is also considering for its report the development of a national office for rare diseases. Its purpose would be to facilitate and support the HSE in the coordination of Centres of Expertise for rare diseases, both nationally and internationally. This office could act as a national point of reference on services, diagnostics, on care pathways and on information relating to rare diseases. The report by my Department on recommendations for dealing with rare diseases, including the establishment of a national office, is being finalised and the Department’s officials have met with the Health Service Executive about the implementation of the report. In the meantime, the HSE is developing a business case about the establishment of such an office.

In addition, the HSE has established a National Clinical Programme for Rare Diseases. A National Clinical Lead has been appointed and a programme manager is in place. The Programme aims to improve and standardise patient care for individuals affected with rare diseases in Ireland, by increasing detection and prevention, facilitating early timely diagnosis, intervention and coordination of care, and increasing awareness, information and support. The Programme has already started its work in mapping out current services and developing care pathways for patients with rare diseases."


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