Rare disease uk Newsletter

Today's newsletter includes:

Survey: Patient Experience of Rare Disease

Have you taken our survey yet? If not, there's still time... https://www.surveymonkey.com/r/rduksurvey

All Party Parliamentary Group on rare, genetic and undiagnosed conditions

As you know, we are in the process of setting up an All Party Parliamentary Group (APPG) on rare, genetic and undiagnosed conditions. As part of this we are asking you and your members to get involved by contacting your respective MPs (don't forget to let us know the details of any responses you may recieve!).

We would like to take this opportunity to thank everyone who has already written and/or asked their patient members to write. Some members have already had responses from their MPs and the group is growing!
It's not, however, too late for you to write - to ensure the APPG for rare, genetic and undiagnosed conditions is successful we need as many MPs and Peers to be actively involved in the group as possible.

Last weekend, some of the RDUK team went along to the SWAN UK (our partner organisation) Annual Funday, where they encouraged SWAN UK members to sign letters and send pictures to their MP (see below).

As their local constituents, you and your members have the most influence over your respective parliamentarians – it will only take them a few minutes to adapt the template letter.

The more MPs that are engaged in the work of the group, the more opportunity we have to raise awareness, influence change, and work together to improve the lives of individuals affected by rare, genetic and undiagnosed conditions.

We will be sure to keep you updated and involved as plans for the group develop.

Click here for more information about the APPG.


  • For seven years Lewis had no diagnosis "For seven years Lewis had no diagnosis. We were told after every test and invasive procedure ... the results are normal. We were told Lewis is an enigma, a mystery. We kept on hoping he might get better."

Access to Health Data: Be a part of The Wellcome Trust’s latest research project

When: Wednesday 21 October 2015, 2pm – 3pm
Where: Central Sheffield

The Wellcome Trust is exploring what patients, families and carers think about different organisations accessing health data and how they use that data. They will be holding a daytime discussion group, run by the independent research agency Ipsos MORI in October.

If you would like to take part or simply want more information about the research please contact Stephanie Crowe by email at Stephanie.crowe@ipsos.com or by phone on 0207 347 3008.

Cambridge Rare Disease Summit

When: Monday 14 September 2015
Where: Cambridge Judge Business School, Trumpington Street, Cambridge, CB2 1AG

150 key stakeholders will come together to debate how to best address the huge social and therapeutic unmet needs around rare diseases. They want as many patient groups to be involved as possible! There will be an exciting line-up of speakers who are leaders in their fields, including a keynote video message from Prof Stephen Hawking.

Register for the event here.

Child Growth Foundation Annual Convention and AGM

When: Saturday 24 October 2015
Where: Hilton Warwick/Stratford upon Avon, A429 Stratford Road, Warwick, CV34 6RE

The Child Growth Foundation is a leading charity focussing on children's growth and endocrine issues. To see more details about this event, and to register, click here.

Help raise awareness of newborn screening

Newborn Screening Awareness Week in the UK is the week commencing the 7th September 2015.

Save Babies Through Screening Foundation UK will be raising awareness of newborn screening with MPs during this week.

As part of this work they would like patients and families to write to their MPs to discuss with them the importance of this issue. You can find their template letter here.

We would be grateful if you could disseminate this through your networks (as appropriate).

European Commission: Call for expression of Interest

The European Commission has released a Call for Expression of Interest for the appointment of one member and one alternate representing patient’s organisations to PRAC (the Pharmacovigilance Risk Assessment Committee).

Information relating to this call can be found here.

The deadline for submission of applications is Wednesday 30 September 2015.

NICE Technology appraisals: Lay member recruitment

NICE are recruiting for a lay member for NICE’s Technology Appraisal Committee. The Technology Appraisal Committee considers and interprets evidence of both clinical and cost effectiveness to produce guidance for the NHS on the use of new and established health technologies. These health technologies are usually medicines but the Committee also makes recommendation about medical devices and other therapies.

They are looking for someone who has:
  • An understanding of the issues important to patients, service users, carers or communities gained, for example:
    • through personal experience you have of treatment and care provided by the NHS
    • as a relative or carer of someone who has used relevant health services
    • as a volunteer or employee of a relevant patient, service user, carer, community or voluntary organisation, or support group
  • knowledge of the experiences and needs of a wide range of people which gives you the ability to champion patient, service user and carer perspectives on this committee
  • the ability to use word processing and the internet, and a willingness to communicate by email
  • time to commit to the work of the committee by attending meetings, reading papers including summaries of research evidence, and commenting on draft documents
  • Good communication and team-working skills.
For further details and information on how to apply please click here. Meetings will take place on a monthly basis in London.

The closing date for applications is 5pm on Friday 16 September. If you’d like to discuss the role or have any questions please contact Laura Norburn by email or on 0161 870 3023 up to 4th September and Chloe Kastoryano by email or on 020 7045 2188 thereafter.

Stratified Medicines in Wales – The Way Forward?

When: Tuesday, 29th September 2015, 12.30pm – 1.15pm
Where: Media Briefing Room – Senedd, Cardiff Bay​

You are invited to join Genetic Alliance UK, ​the Association of the British Pharmaceutical Industry (ABPI) Cymru Wales and ​Cancer Research UK at a joint-meeting, sponsored by David Rees AM.

The aim of this meeting is to discuss the role and use of stratified medicines in Wales and the potential of a multi-stakeholder strategic review during the coming years to identify key challenges and further policy measures that would improve patients’ access to these innovative treatments. Speaking at this event will be Dr Rachel Butler, FRCPath, Head of All Wales Genetics Laboratory, and Dr Virginia Acha, Director of Research, Medical and Innovation, ABPI.

If you would be interested in joining us on the day, please email Rhodri Ab Owen.

Wales - Green Paper: Our Health, Our Health Service Consultation

The Welsh Government is seeking views on how to improve quality and governance in the NHS.

The Green Paper:
  • sets out current systems which support quality and governance in the NHS in Wales
  • seeks views on what else we can do to improve, including the possible use of legislation
The consultation provides an opportunity to consider and discuss:
  • the legislation that may be required to help further improve the quality of healthcare services in Wales
  • revisit the current organisational and governance structures, following the last major health reforms of 2009
The paper informs the public debate on a number of current issues such as:
  • the role of Healthcare Inspectorate Wales
  • leadership in the Welsh NHS
  • the role of patient feedback
​To find out more, visit the Welsh Government website.

The deadline for this consultation is Friday 20 November 2015.

National Museums Scotland and Genetic Alliance UK Workshops and Survey

Last week, representatives of the Fragile X Society, Asthma UK, Cystic Fibrosis Trust, Bechets Syndrome Society UK, the PSP Association, Chromosome Registry and Research Society and Changing Faces attended workshops hosted by the National Museums of Scotland. The workshops were intended to gather the opinions from patient group representatives on objects that may be included in the new science galleries, due to open at the National Museum of Scotland in summer 2016.

Thank you to all that attended and contributed.

In addition to the workshops for patient group representatives, National Museums Scotland are keen to have input from patients, their carers and family members. A short online survey has been put together and can be accessed here.

Please circulate to your members and ask them to respond to help influence the design of the new science galleries.

Cross Party Group on Rare Diseases

When: Tuesday 8 September 2015, 5.30pm – 7.30pm
Where: Scottish Parliament

The meeting will be an opportunity to discuss the value of specialist nursing in rare diseases and to consider the future work plan of the Cross Party Group. It will also be an opportunity for members to raise any issues - please contact our Development Officer in Scotland, Natalie, if there are any issues that you would like to raise at the meeting.

You can register to attend the Cross Party Group meeting here.