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Map the Gap Campaign

14 February 2018 / Posted in: Research

Part of the larger initiative, The GenomeAsia100K project, Map the Gap aims to sequence 100 South Asian Genomes, enabling the development of carrier tests, diagnosis, and treatment for rare diseases, cancers, and diabetes.

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Rare Disease Day – 28th February 2018

14 February 2018 / Posted in: Research

Taking place each year on the last day in February, the main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives.

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Petition to End Prescription Charges for People with Long-Term Conditions

14 February 2018 / Posted in: Information & Support

England is the only part of the UK that charges for prescriptions. It's time that everyone with a long-term condition has access to free prescriptions. Sign the prescription charges coalition petition.

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Contact: Latest Guides and Information

14 February 2018 / Posted in: Information & Support

Contact have published a number of different guides and information sheets that you might find helpful, including their ‘Money Matters’ guide which outlines all the financial help you may be entitled to.

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Opportunity to let NICE hear your views about the impact of 5q SMA and who should be able to access nusinersen

12 February 2018 / Posted in: Research

SMA Support UK has set up a number of surveys so that we can collect different people’s views and share them with MDUK, SMA Trust, TreatSMA, and NICE. Deadline to complete survey(s) is 18th Feb.

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Updated Factsheet from Disability Rights UK

08 February 2018 / Posted in: Information & Support

The comprehensive factsheet will be useful for anyone who is claiming PIP (Personal Independence Payment) for the first time, or who has been in receipt of DLA and invited to apply for PIP instead.

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Our Patient Group Submission to the Scottish Medicines Consortium (SMC)

06 February 2018 / Posted in: Research

Thanks to those who responded to our invitation to take part in a survey to tell us about your experiences of SMA and your views on access to nusinersen. Read a copy of our submission and a summary of the survey results, here.

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Rare Disease Implementation Plans for England Published

01 February 2018 / Posted in: Information & Support, Research

The Department of Health and Social Care and NHS England have published their implementation plans for the UK Strategy for Rare Diseases. England is now in line with Scotland, Wales and Northern Ireland who already have plans in place.

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AveXis Announce Additional Trials of AVXS-101 for SMA

25 January 2018 / Posted in: Research

AveXis have provided an overview of their expanded program of clinical development for their gene therapy drug AVXS-101 in SMA, which incorporates two new trials to include a broader set of SMA patients.

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Biogen’s SMA Community Update Confirms the NICE Appraisal Process

22 January 2018 / Posted in: Research

It also contains a little bit more information about how the possibility of a Managed Access Programme will be explored.

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