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 ...

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.

2014 REPORT ON THE STATE OF THE ART OF RARE DISEASE ACTIVITIES IN EUROPE

Report

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 ...

NDS


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."

Health Committee marks National Rare Diseases Day 2014 as it meets with groups dealing with rare diseases. Link to site

EURODIS Rare Disease Day 2014 Policy Event seeks to Improve Access to Rare Disease Care Link to article

IPPOSI update on Rare Disease Day 2014 Link to site

EUPATI Ireland NLT group to host information morning on 26TH March 2014 Link to information on course

Dear IPPOSI Members,

We are pleased to announce you that the application period for the EUPATI training course will open on Monday 10 March 2014 via the EUPATI website.  This is an exciting and unique opportunity offering patient advocates expert training in medicines research and development, specifically tailored for them.  Launching this application process is a major milestone for the EUPATI project.  Please click on the link above for more information Expert Patient Training Course.  In addition to the application form, you will also find a detailed guide for applicants as well as Q&A document. Please note that the closing date for applications is 20 April 2014.

With this in mind the EUPATI Ireland NLT Group will be hosting a 2 hour Information Morning on Wednesday 26th March 2014 for any patient representative interested in applying for the above.  This event will start with registration at 10.30 and run to 1.00, city centre venue to be confirmed.

Please email us at info@ipposi.ie and let us know if you are interested in attending this information session.

Rare Disease Day 2014 Briefing

Wednesday February 26, 2014
2:00pm – 3:30pm

The Oak Room, Mansion House, Dublin 2

The event will feature updates on the progress being made to establish a strategy for rare diseases in Ireland. Dr John Devlin, Deputy Chief Medical Officer in the Department of Health wil  provide an update on the development of the National Plan for Rare Diseases. Prof Eileen Treacy, Clinical Lead for Rare Diseases will update attendees on the National Clinical Programme for Rare Diseases. Finally, Mr Philip Watt will provide an overview on the work to date of the Rare Disease Task Force. All are welcome to attend the event.

It is free of charge but we would ask you to register in advance by emailing info@grdo.ie or calling Anne on 086 022 9262

For more information about the Genetics and Rare Disorders Organisation please visit www.grdo.ie

Rare Disease Day 2014 Link to site

This year sees a joint Irish North / South collaborative event happening in Belfast.  Following last year's event in Dublin City Hall, the return match is scheduled to take place in Riddell Hall, Queen’s University, Belfast, on 28 February 2014.  The International Theme for the Day is Join Together for Better Care. We hope this second Joint North South Event will continue to add extra impetus to cross border co-operation in health issues. Join us on the day to hear what is going on; to contribute your thoughts and views; to meet old and make new friends and colleagues.

The OUTLINE Programme is:

10.30-11.00 REGISTRATION: Tea/Coffee; scones

11.00-11.05 Welcome: Christine Collins, Chair, NIRDP

11.05- 11.20 European and UK Context: Alastair Kent, O.B.E. Chair,  RDUK

11.20-11.50  Northern Ireland Rare Disease Plan & Irish Rare Disease Plan: Key Note Speakers

11.50- 12:30 Cross Border Collaboration: Next Steps: Q & A and Panel Discussion: “What do you see as the next steps forward?” Chair Avril Daly EURODIS; Panelists: Families and Clinicians working across Ireland

12.30- 13.30 LUNCH: Musical/Children’s events

13.30- 14.30 Joining Together for Better Care: Examples of good practice: Presentations and Discussion: Chair Alison Wilson (MPS) 

14.30-15.00 Poster Competitions Award of Prizes:  3 Categories         Children/Young People (under 18)
        Voluntary Organisations
        Technical/Scientific Posters 
15.00 KEY POINTS & CLOSE Philip Watt, Chair, Rare Disease Task Force Ireland


TICKETS ARE FREE!    Request Here

Rare Disease Day 2014 Offical Video Link to Video

The Rare Disease Day 2014 video is now available in seven different languages for you to enjoy and to share. With the focus on Care this year, the 2014 video poignantly demonstrates the kind of care people with rare diseases need and deserve, and the ways family members, health professionals, and the entire rare disease community are working together to provide care. Created in Barcelona by production company These Glory Days, the Rare Disease Day 2014 video is accompanied by the music of Delorentos, who generously offered the use of their aptly named song Care For



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