Rare Disease UK



Rare Disease UK e-newsletter - Summer 2012

* If you cannot view this email properly, or access the links, you can read it online at - www.raredisease.org.uk/news/summer2012.htm *

Dear Member,

Sorry it has been a while since you last had a newsletter from us, although during the past few months I hope you feel that we have been in regular communication with you as there have been lots of things going on, not least the public consultation on the UK rare disease plan!

Please continue reading for a summary of things we have been working on and news from our members. If there is anything you would like us to include in the next newsletter, please get in touch.

Best wishes,

Stephen Nutt - Executive Officer

 020 7704 3141

Please click the links below to skip to the relevant section, or continue to scroll down:

Updates on our recent work

UK Rare Disease Plan

New member of RDUK team to investigate issues around research and care coordinators

Event brings together key stakeholders to promote NIHR rare disease research

Access to medicines in Scotland

Work underway to establish a Cross Party Group on Rare Diseases in the Scottish Parliament

Debates on rare diseases at Westminster and the Welsh Assembly

The new NHS Commissioning Board

News and requests from our members

Global Research in Paediatrics (GRIP) Project is looking for participants

Paralympic gold medallist urges people to sign up to the Fight for Sight Carrots NightWalk

The British Thyroid Association - iodine deficiency in the UK

The Hypermobility Syndrome Association has a new Chief Medical Advisor

Members’ events

Thyroid Eye Disease Charitable Trust Patient Information Meeting

Latest members

Updates on our recent work

UK Rare Disease Plan

As we're sure you all know, the public consultation on the UK rare disease plan closed on the 25th May. RDUK issued four separate responses aimed at each of the UK’s four health departments. Please click on the links below to read the responses:

Response to the Department of Health - England

Response to the Health and Social Care Directorate - Scotland

Response to the Department of Health and Social Services - Wales

Response to the Department of Health, Social Services and Public Safety - Northern Ireland

At this stage we haven’t heard any news from the health departments regarding their next steps, although we have recently written to each of the health departments to clarify this and we hope to meet with officials to discuss this further in the late summer.

Our responses to the consultation were informed not only by the work we have done in the past, including our report ‘Improving Lives, Optimising Resources: A Vision for the UK Rare Disease Strategy’, but also by the feedback we received from you during the consultation process. A key element of gaining this feedback was the four stakeholder engagement events we held at the beginning of May in London, Edinburgh, Cardiff and Antrim. Thank you to everyone who attended and contributed to these events and made them such a success. A full report of our activities during the consultation period can be read here.

Above: Lesley Greene from Climb and Eurordis speaks about access to information and support at the London stakeholder engagement event.

New member of RDUK team to investigate issues around research and care coordinators


Above: Samantha Reeve

Whilst on the subject of the engagement activity, many of you would have had contact with Samantha Reeve, who worked for RDUK during the consultation period as our Events and Communications Officer. Samantha did an excellent job and we’re delighted that she has returned to us as a part-time Policy Research Officer. Samantha will be conducting two reviews; the first is looking at how public and major funding bodies support research into rare diseases and the second is looking at the value that care coordinators bring to both patients and the health service. We will be in touch with you over the next few weeks for your views on these issues but if you would like any information in the meantime, please contact Samantha -   


Above: Melissa Hillier

In more staff news, the Assistant Director of Genetic Alliance UK, Melissa Hillier returned from maternity leave in May following the birth of her son. Melissa will spend part of her time working on Rare Disease UK, so you may come across her in this capacity!

Rhian Morgan, who worked on RDUK in Wales whilst on secondment at Genetic Alliance UK as the Wales Development Officer has returned to the Telling Stories project at the University of Glamorgan. She will be missed! The recruitment process is currently underway and hopefully there will be someone in post soon!

Event brings together key stakeholders to promote NIHR research into rare diseases

On the 4th July, RDUK held an event with the National Institute for Health Research’s (NIHR) Office for Clinical Research Infrastructure (NOCRI) at the University of Cambridge aimed at promoting rare disease research, sharing good practice and highlighting examples of world-class research taking place at the NIHR’s Biomedical Research Centres (BRCs) and Biomedical Research Units (BRUs).

The event was sponsored by Professor Willem Ouwehand, Professor of Experimental Haematology at the University of Cambridge and the UK’s lead on the International Rare Disease Research Consortium, and Professor John Bradley, Director of the Cambridge BRC.

RDUK is working with the NIHR on a report of the event, but in brief the event explored some of the challenges of conducting research into rare diseases, but also the importance of research into rare diseases with perspectives from Prof Ouwehand, Beverly Searle - CEO of Unique, the rare chromosome disorder charity and Dr David Gillen, the Medical Director of Celgene.

The next session focussed on showcasing some of the research being conducted in the NIHR's Centres and Units and included presentations from Professor Patrick Chinnery from the Newcastle BRC, examples of paediatric rare disease research being conducted by Professor Philip Beales at the Great Ormond Street Hospital BRC for Child Health, a presentation from the NIHR Cambridge BioResource and from Professor Peng Khaw on research into rare eye diseases being conducted at Moorfields BRC.

The event concluded with an open discussion about how to maximise the NIHR’s investment into rare disease research.

Following on from this event with the NIHR, RDUK was delighted to attend ‘Rare Diseases in the UK: Vision 2020’ - organised by Professor Ouwehand and Professor Bradley, to bring together influential figures in the research world to discuss issues around rare disease research. The Chair of RDUK, Alastair Kent also spoke at this event. Attendees included: Professor Sir John Bell (President, Academy of Medical Science), Professor Sir Leszek Borysiewicz (Vice Chancellor, University of Cambridge), Professor Sir John Savill (Chief Executive of the Medical Research Council) and Dame Sally Davies (Chief Medical Officer for England and Chief Scientific Advisor for the Department of Health). The event focussed on three themes ‘Rare Diseases a Common Problem’ looking at the importance of rare disease research, ‘Building Infrastructure for Rare Disease Research’ and ‘Improving the Care of Rare Diseases in the UK’.

It was pleasing to see rare disease research being given such a high priority and we look forward to strengthening our links with those in attendance.

Access to medicines in Scotland

You may recall that we are campaigning around two issues in relation to access to orphan medicines in Scotland:

i) That the Scottish Medicines Consortium (SMC) appraisal process is not suitable for orphan medicines (particularly those for ultra-orphan diseases);
ii) That the Individual Patient Treatment Request (IPTR) process discriminates against patients affected by rare diseases, due to the difficulty in proving exceptionality.

In March, Executive Officer Stephen Nutt, along with representatives of PNH Scotland and the Association of Glycogen Storage Disorders (AGSD) gave evidence on these issues to the Scottish Parliament’s Health and Sport Committee (you can read the transcript of this meeting here - begins p.2023). The Health and Sport Committee on the 12th June decided that these issues would be raised at an evidence session related to broader issues around access to medicines in September, where the SMC, the Association of the British Pharmaceutical Industry Scotland (ABPI Scotland), the Royal College of Physicians and three of the Scottish health boards will give evidence.

We will update you on the conclusions in due course. Natalie Frankish who works on RDUK in Scotland will be ensuring that these issues stay on the radar of policy makers in Scotland. For more information about these issues, please contact Natalie at

Work underway to establish a Cross Party Group on Rare Diseases in the Scottish Parliament

Continuing with issues relating to Scotland, work is underway to establish a Cross Party Group on Rare Diseases in the Scottish Parliament. We are currently contacting supportive MSPs to ask them to join. It is early days, but when we have the minimum number of MSPs confirmed we may ask for help from those of you living in Scotland to contact your local MSPs to ask them to join to raise awarness and expand the group. We will be in touch with more information once we have made further progress. Please contact Natalie Frankish for more information -

Debates on rare diseases at Westminster and the Welsh Assembly

Over the past few months it has been fantastic to have debates on rare diseases both at Westminster and at the Welsh Assembly. On the 30th April, Edward Timpson MP held a Westminster Hall debate, the transcript of which can be read here. On the 4th July, Rebecca Evans AM held a short debate about the rare disease plan in Wales at the Welsh Assembly. Many of you contacted your AMs to generate interest in this debate to great success. You can read our recent communication about this debate here.

The new NHS Commissioning Board

As we slowly gain more information about the structures of the new NHS Commissioning Board, RDUK continues to be actively involved in the scrutiny of the new arrangements through the Patient and Public Engagement in the Specialised Services Patient Public Engagement Steering Group (SSPPESG).

A question mark still remains about the future of the Advisory Group on National Specialised Services (AGNSS). RDUK believesit is crucial that the expertise AGNSS has developed is maintained in the NHS Commissioning Board, along with the focus that AGNSS gives on commissioning services (and more recently drugs) for very rare diseases, which are otherwise in danger of being overlooked.

Baroness Jolly is holding a debate on the future of AGNSS in the House of Lords on Wednesday 17th July.  RDUK’s parent organisation, Genetic Alliance UK, has briefed Lords about the issue and we hope this will contribute to the growing calls for AGNSS’s expertise to be retained.
The Department of Health is currently consulting on the draft mandate of the NHS Commissioning Board which RDUK will be responding to ahead of the deadline on the 26th September. For more information about this consultation, please visit the DH website.

News and requests from our members

If you have any news you would like us to share, please contact

Global Research in Paediatrics (GRIP) Project is looking for participants

The GRIP consortium aims to work closely with patient organisations and affected families, to provide children with safe and effective medicines. On behalf of EGAN – Patients Network for Medical Research and Health - (www.egan.eu), the Dutch Genetic Alliance VSOP (www.vsop.nl) coordinates the interaction between patient organisations and the other consortium members. They are setting up a database (the GRIP Patient Network) of interested patient representatives of European or international patient organisations, to be consulted on relevant issues that the project is dealing with. Please see this letter for more information or contact Maryze Schoneveld van der Linde

Paralympic gold medallist urges people to sign up to the Fight for Sight Carrots NightWalk

Paralympic swimmer Chris Holmes, MBE, is calling on people all over the UK to sign up to the annual Fight for Sight Carrots NightWalk. The event, which sees participants take on either a six or 15 mile route through the streets of London on the night of Friday 21 September 2012, will raise vital funds to help prevent sight loss and treat eye disease.

Chris Holmes, who lost his sight at the age of 14 and went on to become Britain’s most successful individual Paralympic swimmer, said: “Finding ways to reduce sight loss in adults and children is a cause that’s particularly close to my heart, and I hope as many people as possible can join me on the start line on Friday 21 September. Together we can raise vital funds to help Fight for Sight dramatically reduce sight loss for all.”

Julian Jackson, Director of Development and Marketing at Fight for Sight, said: “We’re keen to hear from anyone passionate about bringing hope to people living without sight and who would like to join Chris Holmes on our Carrots NightWalk. Our 2011 event raised over £58,000 for eye research, and this year we’re calling on our walkers to go the extra mile to support our work.”

For more information about how to take part in the Fight for Sight Carrots NightWalk, please visit www.fightforsight.org.uk/carrots or call 0207 264 3900.

The British Thyroid Association has asked us to circulate this press release relating to a special meeting held to discuss iodine deficiency in the UK. Find out more here.

The Hypermobility Syndrome Association has a new Chief Medical Advisor - Dr Alan Hakim. Find out more here.

Member’s events

If you have an event coming up that may be of interest to other, please contact

Thyroid Eye Disease Charitable Trust (TEDct) Patient Information Meeting (PIM).

Date: Saturday the 29th September 2pm - 5pm

Location: Blackford Room, The Post Graduate Education Centre. The Royal Infirmary, 51 Little France Cres, Edinburgh, EH16 4SA

Please contact TEDct (0844 800 8133) for further details.


Latest members

RDUK’s membership has now grown to over 1,200 individuals and organisations, including around 220 patient organisations! We are delighted to welcome the organisations below who have joined us since our last newsletter (Links to these organisations’ websites are available on our Members page):

Motor Neurone Disease Association
dsd families
UK Potsies
The Neuromuscular Centre
Children's Liver Disease Foundation
Pemphigus Vulgaris Network
PSC Support
Birdshot Chorioretinopathy Uveitis Society
The Arran Brown Rainbow Foundation
Purine Metabolic Patients' Association
Ataxia South Wales
George Pantziarka TP53 Trust
Adenomyosis Advice Association
Meningioma UK
Hirschsprung's & Motility Disorders Support Network (HMDSN)
The Congenital Diaphragmatic Hernia Charity
One Clear Vision
Anthony Nolan
UKPIPS (UK Primary Immunedeficiency Patient Support)
Tourettes Action
Great Ormond Street Hospital CAH Parent and Patient Support Group
Children with Tumours
TMAU Support
Alfie's Trust
Henoch Schonlein Support
Mesothelioma Cancer Alliance
Children's Heart Federation
Roald Dahl's Marvellous Children's Charity
FMD Chat


RDUK Secretariat
Rare Disease UK
Unit 4D, Leroy House
436 Essex Road
N1 3QP