Rare Disease UK - Monthly Update - December 2009

Dear RDUK member,

We wish all of our members a Happy New Year and we hope that you enjoyed the festive period. It may feel like a distant memory now, but here is the update for December 2009.

Rare Disease Day 2010 (28th February)

We continue to be busy with the preparations for Rare Disease Day 2010. As you know, the theme this year is “Patients and Researchers: Partners for Life”.

Parliamentary Receptions
As a reminder we are holding parliamentary receptions on the following dates – please note these events are open only to those who have registered to attend so please contact us if you/ representatives from your organisation are interested in attending.

Welsh Assembly – the Senedd, February 24th
Scottish Parliament – Holyrood, March 2nd
Northern Ireland Assembly – Stormont, March 4th

We will be shortly asking our members to get in touch with their elected representatives to ask them to attend the reception. We will provide a template email/letter to send.

Westminster
As you know, we will not be holding a reception at Westminster to mark Rare Disease Day this year. The reason for this is that the timing will coincide with the general election campaign which is not the best of times to influence MPs. Also, due to the high turnover of MPs expected after the election, we believe that a reception would not be a very effective use of resources as there will be many new MPs following the election. We are, however, planning to hold a reception in the autumn and this will be a good time to bring rare diseases to the attention of new and incumbent MPs. In February we will be calling on our members to contact their MP to inform them about Rare Disease Day and again we will provide a template letter/email.

We are also interested in hearing if your organisation will be doing anything to mark the day. We are happy to publicise any activities in our newsletter and on our website.

More information on Rare Disease Day is available on the Rare Disease Day website.

Case Studies
We have had an excellent response from our members with case studies and the PR agency we are working with have been busy trying to place stories in national newspapers/magazines. A big thank you to those who sent in the case study form. We will also be trying to place stories in local media so it is not too late to come forward as a case study whether you are an individual with a rare condition, a family member, a clinician or a researcher.

Become a Friend of Rare Disease Day!
Eurordis, the European Organisation for Rare Diseases, who are coordinating Rare Disease Day at an international level, are keen to encourage as many people as possible from around the world to become a "friend" of Rare Disease Day. A list of friends will be displayed on the website with the aim of demonstrating strong international support for aims of Rare Disease Day. Whether as an individual or an organisation we encourage you to sign up to become a friend - please click here and fill in your details.

Working Groups

December saw the first meeting of the Working Group on Prevention and Diagnosis meaning that all of our Working Groups have now had their first meetings. The group discussed the issues involved in diagnosing and screening for rare diseases. The group will build upon these in subsequent meetings. Thank you to Dr Jim Bonham for chairing the meeting and to all of our expert members for giving up their time to contribute.

In December we also held a meeting of the Working Group chairs to share the issues arising in each group and to discuss overlapping themes and how the groups will proceed. The next meetings will be held February/March.

The aim of the Working Groups is to aid a strategy for rare diseases in the UK by examining the issues involved in providing and accessing services for rare diseases and to come up with a set of criteria that an effective integrated service would have to meet. Each Working Group comprises of expert stakeholders in a wide range of fields including clinicians, academics, researchers, commissioners, patient representatives and industry.

New Members

We were delighted to welcome the following new members:

ECARUCA - ECARUCA is a free on-line resource gathering laboratory and clinical data on the phenotypic consequences of chromosome aberrations which can be viewed in Ensembl and UCSC web browsers. The database has over 5500 cases to which further cases are being continually added by the 393 clinicians and 417 cytogeneticists registered with ECARUCA. ECARUCA is therefore a major international resource on rare disease detected via the light microscope, molecular karyotyping and molecular methods of dosage analysis.

National Genetics Reference Laboratory (Wessex) - The National Genetics Reference Laboratory (NGRL) is funded by the Department of Health to support the UK Genetic Testing Network (UK GTN) in collaboration with NGRL Manchester. Funded by the Department of Health, the translational research programme is concentrating on the development, validation and introduction of array Comparative Genomic Hybridisation (array CGH), Non-Invasive Prenatal Diagnosis (NIPD) and Next Generation sequencing. These developments are transforming our ability to detect, manage and prevent rare diseases.

TRPS Support Group UK (Trichorhinophalangeal Syndrome) – The TRPS Support Group UK provides support to all those with trichorhinophalangeal syndrome and their families. The support group also provide information, give reassurance to others by sharing experiences and raise awareness of TRPS amongst the medical profession and the general public.

Association of Talking Newspapers Northern Ireland (ATNNI) – Provide newspapers and magazines in accessible formats.

Stiff Man Syndrome Support Group - SMS is a neurological condition believed to be of auto-immune origin. It is unique among neurological diagnoses due to its lack of significant similarity to any other neurological diseases. The support SMS Support Group provide advice and support as well as assisting patients in accessing clinicians with knowledge of the condition. The Group also aims to support research into the condition.

Histiocytosis Research Trust - The Histiocytosis Research Trust is a voluntary dedicated to the search for a rational cure for the Histiocytoses - a family of rare diseases of the immune system. The most common variants of the disease are Langerhans Cell Histiocytosis (LCH) or Haemophagocytic Lymphohistiocytosis (HLH) although other less common forms include Juvenile Xanthogranuloma, Rosai Dorfman Disease and Erdheim Chester disease.

The ITP Support Association (Immune Thrombocytopenic Purpura) - The ITP Support Association is a UK charity which aims to promote and improve the general welfare of patients, and the families of patients, with Immune (Idiopathic) Thrombocytopenic Purpura.

If you have any questions on any of these matters, please do not hesitate to contact me.
Thank you for your continued support and wishing you the best for the New Year.

Best wishes,
Stephen

Stephen Nutt - RDUK Secretariat
stephen@raredisease.org.uk
02077 043141
Unit 4D, Leroy House, Essex Road, London, N1 3QP