Rare Disease UK newsletter

Today's newsletter includes:

Update from the APPG on Rare, Genetic and Undiagnosed Conditions

Backbench MPs call for better support for those diagnosed through innovative genomic research projects

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On Wednesday 4 May 2016, the All Party Parliamentary Group on Rare Genetic and Undiagnosed Conditions met to launch their new report ‘Undiagnosed genetic conditions and the impact of genome sequencing’. The report was launched by Ben Howlett MP, Chair of the APPG. Read Genetic Alliance UK's update from the event, and learn more about the report that was launched here.


SWAN UK member, Sarah Oakes, gave a speech at the most recent APPG meeting about her son Joel. You can read what she had to say on the Genetic Alliance UK blog.

Join Genetic Alliance UK

If you are a member of Rare Disease UK, but not a member of our parent charity Genetic Alliance UK, you might want to consider joining. Membership is only open to patient groups, not individuals, and in joining you would:
  • Be part of a united and respected voice for everyone affected by genetic conditions and have a say in what Genetic Alliance UK's message is.
  • Get priority notification and access to Genetic Alliance UK events including: information workshops, our annual conference and opportunities to shape health policy by contributing to charters and manifestos.
  • Have access to over 20 years of experience in policy and campaigning work, information production and patient support
If you are a patient organisation and a member of Genetic Alliance UK you should have received a renewal form by post. If you haven't yet received yours, you can download a renewal form online.
Membership fees are staggered based on the income of your organisation (so if you're a very small patient group you may be able to join for free).
If you have any questions about membership please get in touch with angela.wipperman@geneticalliance.org.uk

PSPA raising awareness with GPs and health professionals

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The Progressive Supranuclear Palsy Association (PSPA) supports families affected by Progressive Supranuclear Palsy (PSP) and Corticobasal Degeneration (CBD) and those who care for them. PSP and CBD are little-known neurological diseases that can rob people of their ability to walk, talk, see and swallow. There is no treatment or cure. A lack of awareness means people are often misdiagnosed as having had a stroke, or having Parkinson’s.

As part of its awareness week, this week, PSPA is encouraging its supporters to take action by delivering a copy of its PSP Red Flags for GPs document to their local GP surgery or hospital.

Fergus Logan, PSPA’s Chief Executive said: 'An accurate diagnosis removes uncertainty and a sense of isolation for families. It also means they are able to access relevant health and social care services, receive information and support from PSPA and take part in our research projects if they wish.'

To find out more about the campaign, or to download a PSP Red Flags for GPs document visit their website.

Show your support on twitter #PSPredflags

Annabelle’s Challenge raising awareness of Vascular EDS

When: Friday 20 May 2016

Vascular EDS is a life threatening connective tissue disorder that affects all tissues, arteries and internal organs making them extremely fragile. Patients are at risk of sudden arterial or organ rupture. Vascular EDS (previously known as EDS Type IV) is a rare type of Ehlers-Danlos syndrome.

On Friday, the #reds4veds campaign asks social media users to post a picture of themselves wearing the colour red in support of VEDS awareness. Don’t forget to put #reds4veds when posting!

For more information, please see Annabelle's Challenge's website.

Developing a method to assist investment decisions in specialised commissioning

NHS England has just concluded a 30 day consultation on a method to prioritise which treatments and policies will be funded in specialised commissioning for the 2016/17 commissioning cycle. We mentioned this in a newsletter a few weeks ago. You can now read our parent organisation, Genetic Alliance UK's response to the consultation.

Findacure events

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Rare disease collaborations networking evening

When: 7pm, Thursday 19 May 2016
Where: Baroosh, Cambridge

Findacure is holding a networking session in Cambridge this week for rare disease groups. Speaker topics will focus on the theme of collaboration, and are detailed in the programme on the Eventbrite page which you can use to sign up here.

'How Rare Disease Patient Groups Can Work With Researchers' Workshop

When: 2 to 5.30pm, Friday 24 June 2016
Where: 5 Old Broad Street, London, EC2N 1DW

As part of their training series for small rare disease patient groups, Findacure are hosting a workshop looking at how patient groups can work with researchers. The meeting will give groups the opportunity to learn about the benefits of working with researchers, the different ways that patient groups can support research and how to establish partnerships.

Register here.

Medical evidence: Be part of The Academy of Medical Sciences’ latest research project

The Academy of Medical Sciences is carrying out research to explore how we can all best use evidence to judge the benefits and risks of medicines. A crucial part of this is hearing from patients, families and carers who have regular contact with the health service and are accustomed to talking with healthcare practitioners about the benefits and risks of medicine(s).

The results of the research will inform policy conversations and be vital for increasing wider understanding across the medical profession and academia of how patients view this important issue.

We are therefore inviting patients and family members in a caring role to take part in two workshops, run by the independent research agency Ipsos MORI.
  • 9.45am to 4pm, Saturday 4 June 2016 at Doubletree Hilton Leeds, Granary Wharf, 2 Wharf Approach, Leeds LS1 4BR
  • 6.15 to 9.30pm, Wednesday 8 June 2016 at Doubletree Hilton Leeds, Granary Wharf, 2 Wharf Approach, Leeds LS1 4BR