It’s been a busy few weeks at Rare Disease UK. We’re still collecting evidence on behalf of the All Party Parliamentary Group on Rare, Genetic and Undiagnosed Conditions as part of its inquiry into the implementation of the UK Strategy for Rare Diseases. Patients, carers, academics, clinicians and industry representatives are invited to submit evidence online or via e-mail. Information about this can be found on our website.
Tomorrow we’re hosting a briefing session with Members of the Scottish Parliament (MSPs). It will be a great opportunity for MSPs to find out about the Scottish Rare Disease Plan and meet patients and families affected by rare, genetic or undiagnosed conditions.
WELSH RARE DISEASE PATIENT MEET-UP
Thursday 8 December 2016
Park Inn, Cardiff
Rare Disease UK and our parent charity, Genetic Alliance UK, are collaborating with the Wales Gene Park to host our annual Rare Disease Patient Network event this December. The programme will focus on advances in genomics and genomic medicine including a talk on Wales joining the 100,000 genomes project and what this means for patients. We have a number of talks in the afternoon from inspirational speakers within the rare disease community.
The audience will be mainly patients and families but will also include some researchers and health professionals. If you are a member of a patient group, please make your members aware of the event as it is a great opportunity to bring together the rare disease community to hear about some of the latest opportunities in genomics and rare disease research.
This free event includes a 2-course festive lunch. Please register via the Eventbrite page.
We look forward to seeing many of you there!
HIGHLY SPECIALISED TECHNOLOGY APPRAISALS CONSULTATION - WEBINAR
12.30 to 1.30pm, Friday 2 December 2016
Many of you will already be aware that NHS England and NICE are consulting on proposed changes to the Highly Specialised Technologies appraisal process. The changes being proposed present a potential seismic shift in the approach to commissioning highly specialised technologies in England.
Genetic Alliance UK will be holding a webinar at the beginning of December to help inform our members on this important topic. We hope that this will be an opportunity to explore the potential consequences for the wider landscape and to understand what this will mean for our community. Please sign up for the webinar here.
UPDATE FROM THE FINAL HEARING OF THE ALL PARTY PARLIAMENTARY GROUP
Last week saw the final hearing on the implementation of the UK Strategy for Rare Diseases in England, hosted by the All Party Parliamentary Group on Rare, Genetic and Undiagnosed Conditions. You can read all about the most recent session here.
GENOME EDITING TECHNOLOGIES: THE PATIENT PERSPECTIVE
Genetic Alliance UK has launched its new report, Genome Editing Technologies: The Patient Perspective.
The report shows that patients and families of those most likely to benefit from genome editing technologies are overwhelmingly positive about scientists pursuing this research.
The great majority of patients feel that the future of genome editing technologies offers more potential benefits than risks, if tightly regulated and used in the treatment of medical conditions.
BUILDING RARE COMMUNITIES WORKSHOP
Genetic Alliance UK will be holding a workshop in February for patients who want to set up a support group, and for those who have set one up in the last year. If you are interested in taking part on behalf of a group you have helped to set up, please register your interest here.
More information about the workshop can be found on Genetic Alliance UK’s website.
TELL YOUR RARE DISEASE STORY
Are you interested in writing a blog about your experience of rare disease? Whether you live with a condition yourself, or are a family member or carer for someone who does, we want to hear from you!
Please read our guidelines and then submit your blog idea to us by e-mailing ■■■■■■■■■■■■■■■■■■■■■■■■■■■■■■■■■■■■■■■.
BRIEFING WITH MSPs TOMORROW
Tomorrow, we are hosting a briefing session with MSPs in Holyrood. The session will feature short speeches from Fiona Murphy (Director of National Services Division), Alan McNair (Senior Research Manager at Chief Scientist Office) and our Chair, Alastair Kent OBE. They will be joined by families affected by rare, genetic and undiagnosed conditions who will share their experiences.
There is still time to encourage your MSP to attend. Why not Tweet them to ask? You could include this infographic. The briefing session will be a great opportunity for MSPs to find out about the Scottish Rare Disease Plan, and also to learn about supporting those in their constituencies who live with rare, genetic and undiagnosed conditions.
If you want to know more, or need help, please contact Natalie Frankish via e-mail on ■■■■■■■■■■■■■■■■■■■■■■■■■■■■■■■■■■■■■■■.
PATIENT EXPERIENCES OF INDIVIDUAL FUNDING REQUESTS (IFR) – SURVEY
Genetic Alliance UK is looking to hear from patients about their experience of NHS England’s IFR commissioning route to see how it works in practice for patients in the rare and genetic disease community. The evidence will be used as part of a response to the consultation happening at the moment on proposed changes to the IFR process. The Individual Funding Request (IFR) process in England allows patients who fall outside the current commissioning arrangements for a treatment to access it, providing that making it available is cost effective for the NHS.
Please fill out the survey to help Genetic Alliance UK tell NHS England how the IFR is working! We’re also looking for patient/carer experiences of IFRs so if you are part of a patient organisation, please disseminate to members. Here are some tools to do this!
INDIVIDUAL PATIENT FUNDING REQUESTS (IPFR) IN WALES
The Individual Patient Funding Request (IPFR) process in Wales allows patients who fall outside the current commissioning arrangements for a treatment to access it, providing that making it available is cost effective for the NHS. The policy has recently been consulted on. You can now read Genetic Alliance UK’s response to the Individual Patient Funding Request proposals in Wales.
TRAINING FOR PATIENT ADVOCATES
Looking for training to help you become an effective patient advocate? EURORDIS runs a summer school to do just that. There is information about the EURORDIS Summer School here. The EURORDIS photo contest closes soon! Don’t forget to get your pictures in by Monday 5 December.