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"Working together we can secure the best use of scarce expertise and resources, maximising the health gain for all those with rare conditions" Alastair Kent OBE, Chair of RDUK

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Past events and documents on the consultation for a UK Strategy for Rare Diseases

On Rare Disease Day 2012, all four UK health departments collaboratively launched a consultation entitled 'UK Plan on Rare Diseases'. You can view the consultation on the Department of Health website here. The deadline to respond was 25 May 2012.

To help our members respond to the Government's consultation on a UK Strategy for Rare Diseases, we held a series of events and webinars and produced a series of supporting documents. 

Consultation events

You can download the presentations from each event below:
 

Wales event

Dr Annie Procter, Clinical Director of the Institute for Medical Genetics
"Diagnosis, prevention and screening"

Hayley Cleaver, Chair of Turner Syndrome Support Society
"Information and support"

Dr Stephen Jolles, Consultant Clinical Immunologist at University Hospital Wales
"Planning and delivering coordinated care in Wales for rare diseases"

Michelle Matheron, Senior Public Affairs Officer for the Welsh Council for Voluntary Action
"Getting your views across: tips on responding to the consultation"

England event

Lesley Greene, Vice President of CLIMB
"A response for patient care, information and support"

Dr Hilary Burton, Director of the PHG Foundation
"Rare disease research"

Becky Purvis, Head of Policy at the Association of Medical Research Charities
"Getting your views across: tips on responding to the consultation"
 

Northern Ireland event

Dr Fiona Stewart, Consultant Clinical Geneticist
"Diagnosis, prevention and screening"

Frances Murphy, Northern Ireland Manger at Contact a Family and Alison Wilson, All Ireland Support Officer for the MPS Society
"Information and support"

Dr Damian Fogarty, Senior Clinical Lecturer at Queens University Belfast
"Rare disease in the UK: strategy for audit and research"

Nick Meade, Policy Analyst at Genetic Alliance UK
"Getting your views across: tips on responding to the consultation" 
 

Scotland event

Dr Zosia Miedzybrodzka, Reader in Medical Genetics at the University of Aberdeen
"Diagnosis, prevention and screening"

Marie McGill, National Lead at the Single Gene Complex Needs Service
"Commissioning, planning and delivering coordinated care"

Professor David Wield, Director of Innogen at Edinbrugh University
"Rare disease research"

Vicky Crichton, Public Affairs Manager at Cancer Research UK
"Getting your views across: tips on responding to the consultation"

We are very grateful to the following companies for their support in enabling us to conduct these activities: Actelion, Alexion, Baxter, Bio Marin, CSL Behring, Genzyme, GSK, Nordic, Orphan Europe, Pfizer, Shire and Swedish Orphan.

Webinars

We ran four webinars tailored to each home nation which included a presentation by Alastair Kent, Chair of Rare Disease UK, as well as audience questions. You can download the live recording of each webinar or the presentation slides from the links below.

Due to technical difficulties some recordings are missing sections at the beginning. Please refer to the slides for any areas missing.

Northern Ireland event 
Download the PDF of the slides

Wales event 
Download the PDF of the slides

Scotland event 
Download the PDF of the slides

England event 
Download the PDF of the slides

Frequently asked questions

All of the questions asked throughout the webinars were answered in a FAQ document, available to download here.

Our recommendations for a rare disease plan

In 2011 we published a report 'Improving Lives, Optimising Resources: A Vision for the UK Rare Disease Strategy', outlining what we would like to see in the UK rare disease plan (the report is available to download here). It includes a series of recommendations for the UK’s health departments across research, diagnosis, planning, information and coordinated care. It may help you to think about what a rare disease plan might look like.

How our recommendations compared to the consultation

We produced a document which compares the consultation document with the recommendations from our Improving Lives report. This was done to help our members in their responses and to assess the strengths and weaknesses of the consultation document. You can download this here.

Practical Guidance

We also published an advice document to help our members respond to the consultation, which included practical suggestions on the structure of a response and what to include. You can download this here.