Saturday, 13 June 2015

UK Support Group 2015 AGM

In one weeks time it will be the UK HSP Support Group AGM in Leamington Spa. I'm looking forward to going and getting some first hand updates on whats going on.

There are two presentations this year:

Prof Henry Houlden - The National Hospital of Neurology and Neurosurgery: The differences and management of pure and complex HSP, Research and network update

Cahir O’Kane – Reader in Genetics – University of Cambridge

Obviously I'll put blog posts up on these after the event. Also a good opportunity to catch up with people. I've also nominated myself to go on the Groups' committee.....

Thursday, 4 June 2015

100,000 genome project

I saw new reports the other month about the 100,000 genome project in England.

Genomics England are embarking on a project to decode and store the complete genomes of 100,000 people in England for the NHS (National Health Service). The project is set to leave a legacy for patients, the NHS and the UK economy. The project focuses on rare disease, cancer and infectious disease, and so it got my attention. You can read details here:

I had a look at this in more detail, and you can find that HSP is already listed as one of the rare diseases which they are planning to cover in the project. The list is here:

11 Genomic Medicine Centres (GMCs) have been set up to deal with the project. People who want to take part should be referred to GMCs by their clinicians.

Interestingly the list of GMCs for rare disease includes the East of England NHS GMC led by Cambridge University Hospitals NHS Foundation Trust. This is one of the key HSP research locations in the UK.

The site indicates that you are unlikely to be considered to take part unless you are already being cared for at one of the GMCs, which means that its people being seen in Cambridge who have the best chance of taking part. Also, the best chance for taking part is someone who has NOT yes had a genetic test undertaken.

So, it looks like I don't need to see about putting HSP forward for consideration in the list. I had thought about volunteering to take part, but seeings as I have already got a genetic test result and I'm not being cared for at Cambridge, its unlikely that I'd be considered for this.

Anyone reading who is being cared for at Cambridge and has a provisional diagnosis of HSP (or other diagnosis without genetic tests) then they are likely candidates and should talk to their clinician if interested in taking part.