News and Event

UCD Rare Disease Microsite

UCD has launched a new Microsite which has been developed by members of the National Centre for Medical Genetics (NCMG) and the National Children’s Research Centre (NCRC). The site provides information for health professionals, in particular general practitioners and midwives, based on common genetic queries. The advice and information on the site has been developed and approved by clinical and laboratory-based experts on rare disorders and genetic testing. In addition to information for health professionals there is also some information for Parents & Families on Recessive Inheritance. The site is still in its infancy as a resource and its creators welcome feedback on how it might be improved and developed.

Visit the site here.

Irish Medical Times Article

This article, first published in the Irish Medical Times, highlights the measures being taken by staff at the NCMG to overcome the chronic manpower crisis in the clinical genetics service.

Read the report here.

Shire release Rare Disease Impact Report

Shire HGT Launch their Rare Disease Impact Report. The findings highlight the difficulties facing patients in the US and the UK, in terms of the accessing to diagnosis and specialist services, economic and psycho-social impact of living with rare disease.

Read the report here.

EUCERD release annual report

EUCERD have released their annual report for 2013 outlining National Rare Disease policies for EU member states. The extensive document describes EU and national rare disease and orphan drug activities up until the end of 2012. There are five sections of the report which can be accessed individually here.

Current provisions, initiatives and policies adopted for rare disease within Ireland can be viewed within Part V of the document- ‘Activities of member states and other European countries in the Field of Rare Diseases.’ This section provides information on Ireland’s position in terms of centres of expertise for rare disorders, registries, neonatal screening, genetic testing and sources of information. It also outlines the activities of the Rare Disease Taskforce and GRDO in 2012 with regard the development of the National Plan for Rare Diseases in Ireland.

Read the report here.


Deciphering Development Delay Study

The NCMG in the Republic of Ireland recently became the 24th centre to recruit patients for the Deciphering Developmental Delay (DDD) project. The UK based project is a collaboration between the NHS clinical genetics service, The Wellcome Trust Sanger Institute and families cross the UK and Ireland. It aims to use new genomic technologies to improve the diagnosis of developmental disorders in children. For more information see the website

http://www.ddduk.org/

Irish Genetic Services in the media

Recent media coverage, following Angelina Jolie’s discovery that she carries a faulty BRCA gene which increases her lifetime risk of developing breast and ovarian cancer, has highlighted the significance of the situation for many Irish women. Professor Andrew Green of the National Centre for Medical Genetics (NCMG) comments on the challenges facing the provision of genetic services in Ireland. Read the article here

Newly published Journal of Rare Disorders

In April 2013 the Journal of Rare Disorders became the first peer-reviewed journal to be completely dedicated to the issue of Rare Disease in the U.S. It brings together all aspects of Rare Disease including ‘the science, progress on new therapies, new drugs, and issues of drug regulation and cost’. The journal aims to focus on cutting edge topics and hopes to expand the body of knowledge available within the field. Access to the first issue of the journal is free and can be found here.

Access to Genetic Services in Europe - Inequity Workshop  June 2013

The National Centre for Medical Genetics (NCMG) has recently collected information about staffing levels for clinical genetic services accross Europe. This has shown that Ireland and NCMG staffing levels in clinical genetics are far below that of other European countries. This has highlighted that Ireland is below the recommended ratio of genetic consultants and genetic counsellors to meet the need of their population. The recommended figure is to have 3 genetic consultants per million of population. Ireland has < 1 per million (currently there is 1 per 1,150,000), click here to see comparison with othe European countries. This has lead to unacceptable waiting times for patients awaiting basic clinical assessment and information.

GRDO and it's member organisations whose families avail of such services have concerns about the under resourcing of NCMG as a National service and the inequity of access to such services in comparison with the rest of Europe. Awareness of this issue is now at European level and is due to be discussed at a workshop as part of the European Society of Human Genetics conference in June.

Autism Spectrum Disorder Conference - June 2013

The Irish Centre for Autism and Neurodevelopmental Research at NUI Galway in collaboration with Autism Speaks are hosting the 2nd International conference on Autism Spectrum Disorders on 11th and 12th of June. For more information click here

Rare Disease Day Events - Rare Disorders without Borders Feb 2013

An all Ireland meeting of patients' organisations, science and industry to mark International Rare Disease Day and the Irish Presidency of the council of the European Union ws held in the City Hall in Dublin. The conference was organised by The Rare Disease Taskforce in Ireland which brings together the Genetic and Rare Disorders Organisation (GRDO), Irish Platform for Patient's, Science and Industry (IPPOSI) and the Medical Research Charities Group (MRCG) along with the Northern Ireland Rare Disease Partnership (NIRDP) and Rare Disease UK. The theme was Rare Disorders without Borders,  Read More


A recording of the event is now available online, click here
Poster outline current initiatives or projects involving Rare Disease were presented at the event to view, click here
Rare Disoders without Borders - Patient's Perspective video to view, click here

Rare Disorders Articles in Irish Medical Times to Raise Awareness ahead of Rare Disease Day

Rare Disease in Ireland, 1 March 2013, click here

Fabry Disease, 22 February 2013, click here

Recognising Hunter Syndrome, 15 February 2013,click here

Gaucher Disease, 8 February 2013, click here

Genetic Counselling for a range of Rare Disorders, 1 February 2013, click here




Establishment of  National Registry for Rare Kidney Disease

Prof . Mark Little  and his team at Trinity Biobank are establishing a National Registry for Rare Kidney Disease at the Institute of Molecular Medicine in St. James's Hospital. This is part of work by Trinity Health Kidney Centre which is part of Trinity Health Ireland. The registry is an itegrated resource accross Tallaght Hospital, St. James's Hospital and Trinity College and in collaboration with other units in the country. It is funded by Science Foundation Ireland, Dublin Centre for Clinical Research and Trinity College Med-Day. Read more


 IPPOSI launches information campaign on clinical trials


17 September 2012 - The Irish Platform for Patients’ Organisation, Science and industry (IPPOSI) today launched a new information campaign aimed at people who have been asked to participate in a clinical trial. Speaking at the event in the Oak Room of the Mansion House in Dublin, broadcaster Áine Lawlor related her own personal experience as a patient, and  CEO of the Health Research Board, Enda Connolly, highlighted the importance of greater public awareness and patient involvement in the clinical trials process. Read more ...

GRDO Joint Statement: Cutbacks to People with Disabilities and those with Mental Health Needs are Unsustainable

Statement issued by Disability Federation of Ireland on behalf of NINE Leading Disability Organisations, listed below, at 11am, Monday 17 September, Buswells Hotel, Dublin

17 September 2012 - “We the under-signed national voluntary disability organisations, representing the diversity of people with disabilities and conditions which are disabling including mental health, make this joint statement to Government regarding Budget 2013. Read more ...

Cross Border Working Between Patient Organisations

11 September 2012 - In the context of developing a National Rare Disease Plan and the EU Directive on patients rights in cross-border healthcare, which entered into force on 24 April 2011, GRDO is working to establish a cross border working group with our equivalent organisation in Northern Ireland, the Northern Ireland Rare Disease Partnership.

We would like to establish in what ways patient support organisations are already co-operating across the border. If you represent a patient organisation, however small, we would be very grateful if you could please complete this single-page form and return it by post or email to GRDO before Friday 28 September 2012.

Proceedings from National Rare Disease Consultation Event at Farmleigh

7 August 2012 - As one of the partners involved in the Department of Health's Rare Diseases Consultation at Farmliegh on the 11th of June 2012, the Irish Platform for Patients' Organisations, Science and Industry (IPPOSI) has made available a video recording of the speech given by the Minister for Health Dr James Reilly and the presentations made by Sub-group Chairs; Eibhlin Mulroe, GRDO Chair Avril Daly, Tony Heffernan and Helen McAvoy. View proceedings here
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Rare Diseases News

June 2012 - The third edition of 'Rare Diseases News' covering April to June 2012 is now available. This newsletter has been published by a group representing patient advocacy groups and industry, who form part of a taskforce supporting the development of a National Plan for Rare Diseases.  To download click here 

Have Your Say on Rare Disease Plan

11 June 2012 - The Department of Health's Consultation Day on the National Rare Disease Plan took place at Farmleigh House in Dublin on Monday 11 June.  An online consultation process was also launched and will be available for the next four weeks, offering all those affected the opportunity to contribute to the formation of the plan. See http://www.hse.ie/eng/services/ysys/Consultation

Consultation_2012

Pictured at Farmleigh (L-R) Tony Heffernan, Bee for Battens, Eibhlin Mulroe, IPPOSI, Avril Daly, GRDO, Helen McAvoy, Institue of Public Health, all members of the Steering Group (Conor McCabe Photography)

To read more about the consultation event at Farmleigh - click here 

Crisis in Genetics Services

11 June 2012 - The provision of adequate medical genetics services is vital to the implementation of any national rare disease strategy. Around 80% of rare diseases are genetic in origin. This can mean that members of a family may be at risk of the same rare disease, or at risk of passing the rare disease on to any children they have.

There is increasing concern in the rare disease community about the state of medical genetics services in Ireland.  GRDO frequently hears from members of excessively long waiting times (more than one year) for specialist assessment, including genetic counselling. Testing for many rare conditions is simply not provided in Ireland. To read more - click here

GRDO Chair Avril Daly elected Vice President of EURORDIS, the European Organisation for Rare Diseases

29 May 2012 - The 2012 EURORDIS Membership Meeting, which took place on 23 May in Brussels, to coincide with the ECRD Conference, saw Chair of GRDO, Avril Daly, re-elected to the Board of EURORDIS at the General Assembly, and subsequently elected as Vice President of the organisation. For details - click here

6th European Conference on Rare Diseases and Orphan Products

29 May, 2012 -  Ireland was well represented at the recent ECRD European Conference on Rare Diseases & Orphan Products, which took place in Brussels from 23 - 25 May. GRDO was represented by Information & Development Officer, Kathy Tynan, as well as Chair Avril Daly, who was overall Co-Chair of the conference in her capacity as EURORDIS board member.

To get a flavour of proceedings, watch the opening session here, led by Avril Daly:

For further details of the event - click here

Consultation Day on National Rare Disease Plan

30 April 2012 - Under the auspices of the National Rare Disease Steering Group, a consultation day on the development of a National Plan for Rare Diseases will take place on Monday 11 June at Farmleigh House in the Phoenix Park, Dublin. 

The Department of Health has asked GRDO to provide email addresses for our members and contacts so that it can include as many stakeholders as possible on its invitation list for this event.

As it is not standard practice for GRDO to disclose contact details of our members, we need your permission to pass on your email addresses to the Department of Health.  If you are interested in taking part in the consultation event, please email kathy@grdo.ie with your consent. 

Please note that places at the event will be limited but that those unable to attend will have the opportunity to make their views known through an online consultation process, details of which will be announced shortly.

Health Research Board hosts workshop on rare disease research

26 March 2012 - On behalf of the National  Steering Committee, the Health Research Board hosted a workshop in Dublin entitled Insights into Successful Rare Disease Research. Addressed by Irish and international experts, the event  provided an opportunity to input into planning for the future of rare disease research in Ireland and inform deliberations in the area of research for the forthcoming Irish Naitonal Plan for Rare Diseases. For full details and speaker presentations - click here.

GRDO welcomes commitment to develop clinical care programme for rare diseases

7 March 2012 - The Genetic and Rare Disorders Organisation (GRDO) welcomes the announcement by Minister for Health, Dr. James Reilly TD of his intention to develop a Clinical Care Programme for Rare Diseases at Seanad Eireann (Irish Senate) on March 7.  For details - click here.

Seanad Eireann debates rare disease

7 March 2012 -  Following on from the meeting of the Joint Oireachtas Committee on Health & Children on Rare Disease Day, the issue of developing a clinical care programme for rare disease was raised in a Seanad debate, attended by Minister for Health, James Reilly. For details - click here

GRDO addresses Joint Oireachtas Committee 

29 February 2012 - On Rare Disease Day 2012, GRDO chairperson, Avril Daly, along with representatives from the National Rare Disease Taskforce , Rett Syndrome Association Ireland and 1p26 Deletion Syndrome Ireland, addressed the Joint Oireachtas Committee on Health & Children.  For further details - click here. To view video proceedings - click here.

GRDO calls for establishment of National Rare Disease Office

28 February 2012 - Survey of patients highlights urgent need for development of co-ordinated healthcare pathways and a central information point on rare conditions

On the eve of international Rare Disease Day, the Genetic and Rare Disorders Organisation (GRDO) Ireland’s national rare disease alliance, is calling for the urgent establishment of a National Rare Disease Office to address serious shortfalls in health and social care for the estimated 6% to 8% of the population affected by rare conditions.

Results of a survey of individuals with rare conditions, published by GRDO today, reveals significant difficulties in the areas of access to diagnosis, information and to treatment, as well as a lack of coordination in delivery of services. For more information and survey results - click here

Rare Disease Day 2012 Promotional Video Launched

13 February 2012 - Six people from Ireland, each with a different rare condition, feature in a fantastic new promotional video produced by Eurordis for Rare Disease Day 2012. Through co-operation with GRDO in Ireland, the European rare disease alliance arranged to film the whole piece in Dublin recently. The message is simple – It’s not unusual to have a rare condition. Look out for us and you’ll see how many we are!

Watch for yourself and read here about the people involved:

Rare Disease in Ireland – Your Experience

20 December 2011 - Following on from our survey of patient organisations, GRDO is now gathering information on the experiences of people in Ireland living with rare conditions.  Together with the Medical Research Charities Group (MRCG) and the Irish Platform for Patients' Organisations, Science and Industry (IPPOSI) and their patient representatives, we will use this information to assist the National Rare Diseases Taskforce ('Towards 2013 -  the National Plan for Rare Diseases') to engage with the Rare Diseases Steering Committee of the Department of Health.  

This initiative aims to ensure that the voices of individuals affected by rare diseases are heard by the decision makers in health and social care.

To complete our survey Rare Disease in Ireland – Your Experience - click here

Rare Disease Day 2012

20 December 2011 - Rare Disease Day is an annual, awareness-raising event co-ordinated by EURORDIS at the international level and the National Alliances of Patient Organisations at the national level.

February 29, 2012 marks the fifth international Rare Disease Day coordinated by EURORDIS and organised with rare disease national alliances in 25 European countries. On this day hundreds of patient organisations from more than 40 countries worldwide are organsing awareness-raising activities converging around the slogan “Rare but strong together”. Rare Disease Day 2012 website - click here

Rare Diseases News

December 2011 - The second edition of 'Rare Diseases News' covering January to March 2012 is now available. This newsletter has been published by a group representing patient advocacy groups and industry, who form part of a taskforce supporting the development of a National Plan for Rare Diseases.  To download click here

GRDO Patient Organisation Survey

5 December 2011 - The Genetic and Rare Disorders Organisation (GRDO) is currently gathering information relating to patient support and advocacy organisations operating in Ireland for people with rare conditions.  GRDO, together with the Medical Research Charities Group (MRCG) and the Irish Platform for Patients' Organisations, Science and Industry (IPPOSI) and their patient representatives, will use this information to assist the National Rare Diseases Taskforce (‘Towards 2013 -  the National Plan for Rare Diseases’) to engage with the Rare Diseases Steering Committee of the Department of Health. 

The survey can be completed online at the following link: http://www.surveymonkey.com/s/K82YY8Y

Rare Diseases News

October 2011 - The first edition of 'Rare Diseases News' covering October 2011 to December 2011 is now available. This newsletter has been published by a group representing patient advocacy groups and industry, who form part of a taskforce supporting the development of a National Plan for Rare Diseases.  To download click here 

GRDO appointment

24 October 2011 - Kathy Tynan has been appointed to the position of Information and Development Officer (part-time) at the Genetic and Rare Disorders Organisation (GRDO).  More information - click here

Rare Disease Day 2011

Rare Diseases Day

This year Rare Disease Day took place on Monday 28th February. GRDO hosted an event in The Royal College of Physicians which provided a forum for those affected by rare disorders to listen to experts and participate in an interactive discussion on the topics: Diagnosis, information to the patient and genetic counselling, Orphan Drugs and Pre-implantation Genetic Diagnosis

For more info see: Rare Disease Day Events


See EURORDIS Website: www.eurordis.ie 

Europlan

The Europlan Ireland Conference of 20 January 2011 welcomed over 160 participants from all stakeholding groups.

The Conference, which was held in Farmleigh House is "an important milestone" in the development of a national health strategy for rare disease patients, according to Dr John Devlin, Deputy Chief Medical Officer at the Department of Health. Speaking at the event, Dr Devlin said the groundwork had been laid for discussion of all the main issues surrounding rare diseases. These include: developing centres of expertise, development of research on rare diseases; access to therapies and treatments and patient empowerment.

For more info and Podcasts - click Europlan

European Strategy on Rare Diseases is Adopted by Health Ministers of the EU

A European strategy that calls upon Member States to implement national plans for rare diseases, before the end of 2013, was adopted by the Council of Health Ministers of the EU today (Tuesday, June 9, 2009). Download full report

Importance of Research on Rare Diseases and Orphan Drugs

There are significant moral, scientific, economic and policy imperatives for conducting research into rare diseases.

A rare disease as defined in the EU Orphan Medicinal Products Regulation (2000) is a disease with an instance of less than five in 10,000 of the population. Download full report.


Recommendation on action in the field of rare diseases

An "Employment, Social Policy, Health & Consumer Affairs" council meeting, organised by the Council of the European Union took place on 9th June 2009 in Luxembourg. Click  here to download the Councils Recommendations on action in the field of rare diseases.