Rare Disease UK


Rare Disease UK Update October/November 2010

Dear Rare Disease UK member,

I would like to begin by saying a big thank you to all those who inputted to our work over the past two months. Hundreds of you have helped us by providing evidence to help shape recommendations for a strategy for rare diseases and I’m pleased to be able to update you on progress and activities below.


Click on the headings below to skip to:

News from Rare Disease UK

Rare Disease Day 2011 – register now

Timeline for developing a strategy for rare diseases confirmed

UK EUROPLAN Conference

Excellent response to RDUK’s consultation paper

New RDUK publication to be launched 6th December

RDUK Annual Report now available

Focus Groups held in Scotland, Wales and Northern Ireland

Policy news and updates from health departments

RDUK responds to NHS in England’s White Paper

RDUK responds to House of Commons Health Committee Inquiry

Westminster: Parliamentary Question

Northern Ireland: Assembly Question

Rare Disease UK’s activity 

Other news

Ciliopathy Alliance UK launched

RDUK supports PAWG Scotland’s medical research policy calls

Encouraging outcome to Science is Vital Campaign

New mini-documentary raises awareness of Prader-Willi syndrome

New Director at the PHG Foundation

New members




News from Rare Disease UK


Rare Disease Day 2011


Register now to ensure your place at parliamentary receptions to mark Rare Disease Day 2011!

Rare Disease Day is marked internationally on the 28th February and RDUK is responsible for coordinating activities in the UK. The purpose of Rare Disease Day is to raise awareness, both among policy makers and the general public, to call for rare diseases to be seen as a health priority and to provide a voice for people with rare diseases and their families.

Rare Disease UK will be holding four parliamentary receptions across the UK to bring all those with an interest in rare diseases together to highlight the issue to politicians.

At the events we will also be launching our report outlining recommendations for a strategy for rare diseases, cumulating a year and a half of work gathering evidence.

We will be holding receptions on the following dates:

Scottish Parliament – 22nd February 6:30pm – 8:30pm
Westminster – 28th February 4pm-6pm
Northern Ireland Assembly – 3rd March 12pm-2pm
Welsh Assembly – 16th March 12pm-2pm

Register early for these events to be sure of a place!

Please note: you MUST register in advance to attend these events.

To register please send your name(s), address and contact email/telephone number to:

Scottish Parliament event –
Natalie Frankish - 0131 651 4805

Westminster or Northern Ireland Assembly event –
Stephen Nutt - 020 7704 3141

Welsh Assembly event –
Buddug Cope - 02920 687 646

We encourage attendance from all with an interest in rare diseases including patients and families, patient organisations, clinicians and health professionals, researchers, members of the pharmaceutical industry etc.

There are other ways to get involved in Rare Disease Day including writing to your politician(s), participating in media work or organising your own awareness raising activities. We will be sending out more information shortly.

More information about Rare Disease Day can be found at: www.rarediseaseday.org

Timeline for developing a strategy for rare diseases confirmed

We are delighted to announce that a timeline for developing a strategy for rare diseases has been confirmed. The strategy, which is being drawn up in partnership between the Department of Health and the health departments of the Devolved Nations, will be produced over the summer of 2011 and will subsequently go out for a 12 week public consultation in line with the “Government Code of Practice”.

The news was announced by Dr Ed Jessop from the National Specialised Commissioning Team at the UK’s EUROPLAN conference (see news story below). Dr Jessop, who represented the Department of Health at the conference, anticipated the strategy covering the remaining term of the coalition government and possibly beyond.

Dr Jessop also expressed the desire not to duplicate the extensive work conducted by RDUK in developing recommendations for a strategy for rare diseases and a willingness by the Department of Healtg to take RDUK’s recommendations into consideration.

EUROPLAN UK Conference

Rare Disease UK hosted the UK’s EUROPLAN conference on the 16th November at the Nowgen Centre in Manchester. Over 80 attendees from a variety of backgrounds, both patients and professionals, attended the conference aimed at gathering evidence to input into policy at both the European and UK level.

Five separate workshops were held looking at:
Governance of a UK strategy
Definition, codification and inventorying of rare diseases
Standards of care/centres of expertise
Patient Empowerment

EUROPLAN is a three year project which began in April 2008. The objectives of EUROPLAN are:
- To stimulate a discussion and reach a consensus on the importance of national plans for structuring all relevant actions in the field of rare diseases
- To promote the development of national plans or strategies for rare diseases within EU Member States 
- To provide an instrument to support countries in designing national plans or strategies for rare diseases

The UK EUROPLAN conference was one of 15 conferences being held across Europe. A report will be produced outlining the results of each conference which will inform the wider EUROPLAN project in formulating tools to assist Member States in developing their plans or strategies for rare diseases. These tools consist a:
1. Guidance document on recommendations for the definition and implementation of national Plans and Strategies for rare diseases
2. Report on current practice and relevant good case studies in the field of rare diseases
3. Set of indicators for monitoring and evaluating the implementation of national initiatives

We are currently working on the report as a result of the conference which will inform the European Commission as well as RDUK’s own work in developing recommendations for a strategy for rare diseases in the UK. This report will be made available in due course.

For more information on the EUROPLAN initiative, please see the website

We wish to thank everyone for their active participation which made the conference such a success. We also would like to give a special thanks to the Chairs of each of the sessions.

Excellent response to RDUK’s consultation paper

You may recall that the initial findings and recommendations of RDUK’s five Working Groups went out for consultation over the autumn. The consultation closed on the 29th October and we are busy feeding the comments we received into our final report which will be launched on Rare Disease Day 2011.

The responses we received were overwhelmingly positive but we also received a great deal of constructive comments, evidence and examples of good practice to back up our arguments.

Over 90 responses were received from a wide range of organisations and individuals including:
– 34 patient organisations
– 6 pharma companies (and 1 umbrella body)
– 6 professional bodies
– 3 clinical/research networks
– 17 patients/family members
– 12 health professionals
– 6 researchers

Once again we thank all those who responded for their input.

New RDUK Publication to be launched 6th December


Over the summer, RDUK conducted a survey of 600 patients and families affected by over 100 different rare diseases. The aim of the survey was to raise awareness and to highlight some of the many issues that affect patients and families with rare diseases. The results demonstrate that despite the fact that there are over 6000 rare diseases all affecting the patient in different ways, patients and families face similar issues in the areas the survey covered. These areas are:
Patient Care, Information and Support
Coordination of Care
Access to treatment

The results of the survey, along with case studies from 12 patients and families, are highlighted in a new publication “Experiences of Rare Diseases: An insight from patients and families”.

This publication will be released on the 6th December. We hope to gain media coverage to publicise the release in order to raise awareness of the issues. Many thanks to those of you who sent in the form indicating that you would be willing to participate in media coverage. Fingers crossed that there is interest!

The report will be made available to all upon release.


RDUK Annual Report now available

I’m pleased to inform you that the RDUK Annual Report July 2009-June 2010 is now available on the RDUK website along with the minutes from RDUK’s AGM which was held on Monday 13th September.

The Annual Report outlines RDUK’s activities over the period, as well as looking forward to the year ahead.

To see the Annual Report, please click here

(Hard copies are available on request)

To see the minutes from the AGM, please click here

Focus Groups Held in Scotland, Wales and Northern Ireland

During November we held three multi-stakeholder focus groups in Scotland, Wales and Northern Ireland to discuss issues around research and the provision of services and treatment for patients with rare diseases in these nations.

Over the past year RDUK’s Working Groups have been meeting to discuss why a strategy for rare diseases is needed by examining the issues currently affecting service provision for people with rare diseases and to develop recommendations which will form a basis of the report to be launched on Rare Disease Day 2011.

Although we have had representation from the Devolved Nations on our Working Groups, we are conscious that not all nations have been represented at all meetings. The purpose of these focus groups was to look at rare diseases in the context of the Devolved Administrations in order to ensure that any recommendations developed by RDUK take into account the different health and social care systems and also other considerations e.g. geography.

The findings of the focus groups will inform the development of RDUK’s report into a strategy for rare diseases.

Policy news and updates from health departments

RDUK responds to NHS in England’s White Paper

RDUK submitted a response to the consultation on the NHS White Paper, Equity and Excellence: Liberating the NHS which closed on the 5th October.

We used the response to remind the Department of Health how a strategy for rare diseases would ensure that the vision set out in the White Paper also applies to patients and families with rare diseases, who are frequently forced to accept an inequitable service as they have the misfortune of their condition being rare.

RDUK’s response to Equity and Excellence is available here

We also responded to the consultation paper Liberating the NHS: Commissioning for patients which closed on the 11th October. Our response affirmed the importance of specialised commissioning for rare diseases and stressed that localism is not always best in order to understand the health needs of the patients we represent. The strength of GPs lies in their understanding of a broad range of conditions that they see on a regular basis. There are over 6000 rare diseases and GPs may only come across some of these conditions once (if at all) in the duration of their careers. Many patients with rare diseases have complex needs and GPs do not have the knowledge necessary to understand what services are necessary to meet these needs the majority of the time.

Consult our full response here

We will also be responding to the following consultation papers launched on the 18th October:
An Information Revolution
Greater Choice and Control

These consultations close on the 14th January. Any comments on these are most welcome and can be sent to

All the NHS White Paper consultations are available here.

RDUK responds to House of Commons Health Committee Inquiry

RDUK submitted a written response to the House of Commons Health Committee Inquiry into commissioning. Details of the inquiry can be found here:

The rules governing Committee Inquiries prohibit us from publishing our response until done so by the Committee. However, a summary of our response is:

- There are many issues facing commissioning of specialised services currently, most notably the inequitable provision of services and a “postcode lottery”.
- The changes proposed in the NHS White Paper pose both threats and opportunities to services for patients with rare diseases.
- Due to the insufficient knowledge of rare conditions at a local level, the NHS Commissioning Board should be responsible for those specialised services currently commissioned at a regional and national level. 
- The budget for specialised services must be allocated directly to the NHS Commissioning Board specifically for specialised services. This budget must be flexible to allow for expansion of the number of specialised services.
- It is crucial that engagement is facilitated between the NHS Commissioning Board and GP consortia to ensure that services commissioned at both levels are integrated and that there are no gaps in service provision.

Our response will be made available on our website when all the evidence has been published.

Westminster: Parliamentary question on a strategy for rare diseases

There was confirmation from the Minister of State that the Department of Health is working to develop a strategy for rare diseases.

Andrew George MP: To ask the Secretary of State for Health what steps his Department has taken to ensure compliance with the Council Recommendation on European Action in the field of rare diseases adopted on 8 June 2009. [18342]

Simon Burns MP, Minister of State for Health responded: Officials in the Department have held meetings with the devolved Administrations and also met with several key stakeholders as part of the development of a plan for rare diseases. The plan will be ready by 2013 in line with the council recommendation.

Northern Ireland: Assembly question on a strategy for rare diseases

There was a question regarding the development of a strategy for rare diseases in the Northern Ireland Assembly. We are pleased that the response affirms the commitment of the Minister for Health, Social Services and Public Safety to developing a strategy.

Pat Doherty MLA asked the Minister of Health, Social Services and Public Safety what plans his Department has to develop a rare diseases strategy.  (AQO 293/11)

Minister of Health, Social Services and Public Safety: The European Union defines a disease as rare if it affects fewer than 5 in every 10,000 people. In 2009 the European Council (EC) issued a Recommendation that member states should develop rare disease strategies to improve access to appropriate specialist care for patients with rare illnesses. My Department is fully engaged with all UK health departments in developing a national response to the EC Recommendation. That response will include a UK national rare disease strategy which will bring together research, prevention, diagnosis, best practice in treatment and awareness to secure the best possible outcome for all UK patients.

Rare Disease UK’s other activity

Westminster Government and the NHS in England

We had a very positive meeting with Earl Howe, the Parliamentary Under-Secretary of State for Quality, to update him on our work, to discuss the need for a strategy for rare diseases in light of the restructure of the NHS in England and to discuss what action the Department of Health has been taking.

We met with Teresa Moss, Director of NHS Specialised Services

Other activity

We exhibited at the International Symposium on Dietary Treatments for Epilepsy and other Neurological Disorders hosted by Mathew’s Friends

We attended and spoke at a rare disease study day aimed at allied health professionals in Northern Ireland. The day focussed on Progressive Supranuclear Palsy, Motor Neurone Disease and Huntington’s disease

The chair of RDUK Alastair Kent, gave a presentation “Rare Diseases and NICE” to the Patients Involved in NICE (PIN) Group

We had one of our regular catch up meetings with the Specialised Healthcare Alliance (SHCA) to discuss responses to the NHS White Paper

We spoke about developments in rare disease policy at the paroxysmal nocturnal hemoglobinuria (PNH) patient meeting in Birmingham

We met with Professor Sir John Burn and Dr Gill Borthwick to discuss the NIHR Collaborative Clinical Research Network Speciality Group in Genetics and to discuss general issues around research into rare diseases

We attended the UK Genetic Testing Network Conference: Better Care, Better Value

Other news

Ciliopathy Alliance UK Launched

We were delighted to speak about Rare Disease UK at the launch of Ciliopathy Alliance UK. The Ciliopathy Alliance UK is a newly formed alliance of medical researchers, doctors and patient organisations representing patients and families suffering from ciliopathy diseases.

Ciliopathy diseases (some of which are rare like Primary Ciliary Dyskinesia) are caused by defects in the function or structure of cilia, small hair-like protuberances, like antenna, found on the surface of virtually every cell in the human body. Once thought to be vestigial organs, defective cilia are now understood to underlie a number of devastating genetic conditions including:
Alstrom Syndrome, Laurence-Moon-Bardet-Biedl Syndrome, Nephronophthisis, Orofaciodigital Syndrome, Polycystic Kidney Disease, Primary Ciliary Dyskinesia, Senior-Loken Syndrome, Usher Syndrome.

The Alliance was formed to:
Share knowledge and understanding
Promote awareness of ciliopathies and the respective patient organizations
Encourage collaborative research and facilitate where possible
Apply for research funding from government, trusts and foundations

More information is available on the Ciliopathy Alliance UK website

RDUK supports PAWG Scotland’s medical research policy calls

PAWG Scotland (Public Affairs Working Group) is group of charities working to influence research policy in Scotland, coordinated by the Association of Medical Research Charities.

The five policy calls to the Scottish Government are:
        Give science the priority it deserves
        Support universities to carry out world-class research
        Ensure the discoveries we fund reach the people who need them
        Train, develop and support world-class medical researchers
        Promote the benefits and importance of medical research

The full policy briefings are available here

PAWG Scotland will be contacting MSPs and prospective MSPs ahead of the May 2011 election to ensure medical research is on their agenda; asking them to support the policy calls and work with medical research charities to build Scottish science for the future.
Consult the full story on the AMRC website

For more information on PAWG Scotland, please contact Becky Purvis –

Encouraging outcome to Science is Vital Campaign

In the last newsletter we encouraged members to support the Science is Vital Campaign. We’re pleased to report that the outcome of the campaign was a relatively successful one – in the Government’s spending review, the science budget was frozen. This means that there will be 10% less on research spent in 2014/15 than we are today. It could have been far, far worse.

UK science is still not entirely safe. While we have made cuts to science, our competitors in the US and Germany are increasing their investment – there is still a risk of a brain drain. Reforms to university funding, severe pressure on capital projects and the detail of the allocation of the budget are all still to come. The UK science community must weather this.

Science is Vital will continue to keep on fighting for the interests of science through these tough times of cuts and change.

For more information on Science is Vital, pleasesee the website

New mini-documentary raises awareness of Prader-Willi syndrome

'The Scanner' is the winner of the Digital Revolutions Award at the Sheffield Documentary Festival 2010.

The film shows how the latest computing technology influences the lives of patients with Prader-Willi syndrome - a rare genetic condition that causes near permanent hunger, leading in turn to chronic obesity. Dr Alastair Garfield and Kate McAllister MA explain how technology is helping scientists change the lives of sufferers for the better.

Watch the video here


New Director for PHG Foundation

RDUK are delighted that the Chair of our Working Group on the Coordination of Research, Dr Hilary Burton, has been appointed Director at the PHG Foundation.

Previously Programme Director at the Foundation, Hilary is well known to supporters of the Foundation as a leading light of public health genomics in the UK.

Read more

If you have any news or event you would like included in the next newsletter, please contact

New organisations

We are delighted to welcome the following new members to RDUK.

Bayer - is one of the ten largest specialty pharmaceutical companies in the world. Bayer aims to improve people’s quality of life through research and development of innovative drugs and novel therapeutic approaches.

Fanconi Hope Caritable Trust - Fanconi Hope is a registered national charitable trust set up by parents of Fanconi Anaemia (FA) affected children and clinicians with an interest in FA to support research into FA.

POPSY (Parents of Partially Sighted and Bind Youngsters) – POPSY is a Support Group for parents and carers of children with ‘special needs’ that was set-up to help others in a similar position.

The Rett Syndrome Research Trust - RSRT is a nonprofit research organization exclusively focused on the development of treatments and cures for Rett Syndrome and related MECP2 disorders.

The Ring 20 Chromosome Foundation - The Ring Chromosome 20 Foundation was created to provide information, resources and assistance to families affected by ring chromosome 20 syndrome.

RSI Action – RSI Action is the national charity for repetitive strain injury.

Sturge-Weber UK - The Sturge-Weber Foundation UK is a voluntary support group for families and adult sufferers affected by Sturge-Weber syndrome, a rare neurological disorder.

Thalidomide Trust - The aim of the Trust is to provide relief and assistance for those people born, in the United Kingdom, damaged as a result of their mothers having taken the drug Thalidomide (as manufactured by Distillers Biochemicals Limited) during their pregnancy.

NET Patient Foundation UK – The Net Foundation offers information and advice to those affected by neuroendocrine tumours.

Ebstein’s Society - The Society allows parents (or relatives) to share experiences, to chat together, to read the up-to-date research and to raise money to fund research into Ebstein’s Anomaly.

Best wishes,


RDUK Secretariat

020 7704 3141