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SPG11 and SPG15 Advisory Meeting 2018 - The Maddi Foundation

SPG11 and SPG15 Advisory Meeting 2018

SPG11 and SPG15 Advisory meeting at Cambridge Institute of Medical Research

Introduction:

On behalf of The Maddi Foundation and Cambridge Institute of Medical Research, we would like to thank everyone who attended and appreciate the willingness to participate in this first ever meeting as a focus on SPG11 and SPG15.

We were extremely fortunate to have so many impressive people attend the meeting from all over Europe in the effort to present their findings to find cure to treat these devastating diseases. It was fascinating to hear about the different interests and avenues into SPG11 and SPG15 either from a clinical or cell biology perspective, and strategies for therapeutic intervention.

During this meeting there were further action plans put in place:

• To prepare a second meeting focussed on SPG11 and SPG15

• To share patient lists and questionaires/protocols between those interested in collating their data into a registry.

Maintain links and dialogues between attendees to see if there are any avenues for collaborative projects, either through joint grants or less formal arrangements (like the exchange of cell lines)

Presentations slides from Scientists and Clinicians at the Advisory meeting

The meeting was chaired by Dr Evan Reid and Professor Margaret Robinson

Dr Jenny Hirst – Defined New Roles for AP-5, SPG11 and SPG15 in a novel trafficking step. Providing explanation of endolysome accumulation in AP-5 deficient cells

Professor Giovanni Stevanin – Towards a Therapy for SPG11

Professor Santorelli – SPG11, SPG15 and beyond –Dalfampridine (4-aminopyridine), a voltage-dependant potassium channel blocker that improve walking in Multiple Sclerosis

Professors Jurgen Winkler and Beate Winner – Human Induced pluriportant stem cells, a window into the pathogenesis (and treatment) of SPG11

Professor Stephan Klebe – Role of Inflammation in spastic paraplegia type 11

Dr Cahir O’Kane – SPG11/ALS5/Spatacsin in Drosphila endosomal and autophagic membrane traffic

Professor Mimoun Azzouz – Gene therapeutic strategy for SPG15

Dr Thomas Bourinaris – SPG11 and SPG15 in the UK and developing collaborations

We are very thankful to all the scientists who traveled from all over Europe to attend the meeting in person at the Cambridge Institute of Medical Research. A big thank you to Dr Jenny Hirst who helped to organise this meeting. Please see attendees below.