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 ...
EURORDIS member webinar on European Reference Networks - video/ presentation60 participants took part in this week’s member webinar on European Reference Networks (ERNs). This webinar follows discussions on ERNs that took place at the EURORDIS Membership Meeting 2015. If you were unable to participate you can watch a video of the webinar (which includes a presentation by EURORDIS CEO Yann Le Cam and Research & Healthcare Director Matt Johnson, as well as a Q&A session) below.
Video (please note, it will take around 1 minute to load)
Presentation given during webinar
• EUCERD Recommendations on Rare Disease European Reference Networks
• Addendum to EUCERD Recommendations of January 2013 (page 7 includes proposed groupings for ERNs)
• European Commission webpage on European Reference Networks
• ERN Board of Member States webpage
Rare Diseases International (RDI)Rare Diseases International (RDI) is the recently launched global alliance of patients and families of all nationalities across all rare diseases. It will be the voice of an estimated 280 million people living with rare diseases around the world today. As such, it will work to give visibility to rare diseases in the global health agenda.”
How to build a global network
Launch of Rare Diseases International, the Global Voice for Rare Disease PatientsMore information here
National Rare Disease Office launchedFollowing on from the publication of Ireland’s National Rare Disease Plan last July 2014, the National Rare Disease Office was officially launched by Minister for Health Leo Varadkar on June 4, 2015 in collaboration with the HSE/Royal College of Physicians of Ireland Rare Diseases Clinical Programme. The National Rare Diseases Office is now located at the Mater Misericordiae University Hospital, Dublin (MMUH).
Launch Information presentation
Launch Information pdf
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 BoysWednesday, 24 June 2015 from 09:00 to 17:00 (IST)
Dublin 3, Ireland.
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 firstname.lastname@example.org 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: email@example.com 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: firstname.lastname@example.org
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
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 DiseasesLink to site.
Genetic Protection - Review of Part 4 of the Disability Act 2005Part 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: email@example.com
- 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 firstname.lastname@example.org 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 WindleIt 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.
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 EUROPEReport
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 2014-2018Plan Launch Release Article.
National Rare Disease Plan
Report of the Consultation for a National Rare Disease Plan for Ireland
Plan for Rare DiseasesGRDO 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 EligibilityHave 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 ChildrenIPPOSI’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) .
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."
Latest news27 February 2014 – Oireachtas Joint Committee on Health and Children Presentations on Rare Diseases Day 2014.
- GRDO opening statement
- Academic Centre on Rare Diseases, o. statement
- HSE opening statement
- SNPA opening statement
- Rett Syndrome Association of Ireland, o. statement
- Rare Disease Taskforce, opening statement
- Link to all Presentations
What causes genetic conditions? June 2014 - Read more
ECRD 2014 Berlin: Putting the rare disease puzzle into place. Over 750 stakeholders gather at the 7th European Conference on Rare Diseases & Orphan Products May 2014 - Read more
Were you unable to attend the annual EURORDIS Membership Meeting? May 2014 - Read the eNews report - available in 7 languages!
May 27th -Study regarding Rare disease web information for families in Ireland May 2014 - More Information
Statement By Prof. Eileen Treacy at Joint Health Committee Meeting27th February 2014 February 2014 - See Statement
Kids with rare diseases to benefit from new genetic tests Summary: HRB-funded researchers at Crumlin Children's Hospital and University College Dublin (UCD) have developed new genetic tests that will speed up diagnosis of rare diseases in children and help avoid the need for invasive procedures. The tests will be launched on European Rare Disease day (February 28, 2014) More Information Here
The European Commission cross-border care The European Commission is contracting a service provider to analyse the current situation for EU citizens regarding free movement, and this includes patients' rights to cross-border care. EURORDIS are writing a note to the European Commission on difficulties that patients have experienced and are asking for specific cases of issues patients have in accessing cross-border care. February 2014 - More Information Here
Holy $%#@! Rare Diseases and Disorders Have Become Vogue! From Near Invisibility to the Media Spotlight! February 2014 - See Blog
Newsletter 2011-2012 - click here
Newsletter 2010 - click here
Newsletter 2009 - click here
Newsletter 2008 - click here