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(Batten Disease) & Patient Organisation Meeting 13th International Conference on Neuronal Ceroid Lipofusinoses (Batten Disease) & Patient Organisation Meeting London, UK 28th - 31st March 2012 Windsor Conference Centre, Royal Holloway College, University of London Conference Organisers Jon Cooper, Sara Mole, Ruth Williams Co-Organiser David Pearce Scientific Organising Committee Jonathan Cooper (Institute of Psychiatry, King's College London, UK) Sara Mole (University College London, UK) Ruth Williams (Evelina Children's Hospital, Guy's and St Thomas NHS Foundation Trust, UK) David Pearce (Sanford Children's Health Research Center, Sioux Falls, SD, USA) Thomas Braulke (University Medical Center Hamburg-Eppendorf, Hamburg, Germany) David Palmer (Lincoln University, New Zealand) Mark Sands (Washington University School of Medicine, St Louis, MO, USA) Jaana Tyynelä (University of Helsinki, Finland) Local Organising Committee Jon Cooper, Sara Mole, Ruth Williams, Hannah Mitchison, Claire Russell, Guy Tear, Brenda Williams, Andrea West (BDFA), Heather Band (BDFA) Welcome It is our pleasure to welcome all participants to this 13th International Conference on Neuronal Ceroid Lipofusinoses (Batten Disease) & Patient Organisation Meeting, plus many additional satellite meetings, on behalf of the Conference Organisers and Local Organising Committee. An NCL conference has been held approximately every other year on alternate sides of the Atlantic. This is the only forum that brings together those with interests in basic science and clinical care for this group of devastating diseases. This year we are adding new dimensions to the NCL2012 Scientific Conference. Our co-hosts, the UK Batten Disease Family Association (BDFA), are bringing together Patient Organisations, professionals and affected families for a parallel two day conference, which will include combined sessions with the scientific conference on the final day. We are also hosting many short satellite meetings, including some for participants who will attend just for one event. One of these is the first meeting of the newly formed Batten Disease International Alliance (BDIA). The BDIA is a new group of Batten Disease Patient Organisations and Research Foundations who are working together to promote a greater understanding of Batten Disease, by facilitating research, raising awareness and to provide support for affected families. Finally, we will close the conference with a combined and interactive session including a new venture, the ‘Market Place’, and end our time together with a banquet. Our primary goal is to provide a conference that will maintain the highest standards of scientific and clinical presentations. However, we also wanted to provide opportunities for other professionals and families to participate in events that were relevant to them. We have chosen this conference venue and organised a program that will bring together the Science Conference, Patient Organisations, the first meeting of the BDIA, and other professionals in different ways, to maximise the opportunities for interactions between attendees. To achieve these goals we have drawn upon the goodwill and expertise of many, such as the Scientific Committee, the Session Chairs, those young scientists who will summarise the scientific sessions each day for attending parents, and experts who will write review articles following this conference to be published in the journal Biochimica et Biophysica Acta, as well as conference staff at Royal Holloway College. We thank them for all the work they have already done and will do over the next few days. We hope that you enjoy this Conference and look forward to meeting all of you over the next few days. Jon Cooper Sara Mole Ruth Williams 2 On behalf of the Batten Disease Family Association (BDFA), I would like to welcome you all to NCL 2012. This is the first time that a Patient Organisation has co-hosted an NCL conference and it promises to be a special meeting, not only for its contribution to NCL science but because so many parents, professionals and supporters of those affected by Batten disease are able to attend. As an organisation, it is something that we have always been committed to and on behalf of the BDFA, I would like to express our thanks to Jon Cooper, Sara Mole & Ruth Williams for their vision, and dedication which have helped to make it a reality. I would also like to thank the BDFA Team of Andrea West (Charity Manager) & Heather Band (Research Trustee) for all their hard work & commitment. A unique feature of this conference will be the combined sessions, especially on the Saturday, made possible by generous grants from UCL, and Jeans for Genes, which will provide time for scientists and families to meet, exchange information and learn from each other. It is also wonderful to see young scientists offering to spend time during the meeting to help parents better understand the relevance of the scientific sessions. During the parallel 2-day Patient Organisation meeting there will also be seminars, workshops and networking opportunities, which everyone is encouraged to attend. The recent launch of the Batten Disease International Alliance is a very exciting development and we look forward to hearing about how this will benefit all involved in Batten disease during the Patient Organisation meeting. We hope that everyone will benefit from attending this meeting and will take full advantage of the opportunities offered to increase and share in the diversity of our knowledge of Batten Disease. Only through forums such as this, with everyone working together, can we achieve our ultimate aim of the advancement of scientific knowledge leading to effective therapies and ultimately a cure to bring light to Batten disease. Pauline Docherty BDFA Chair of Board of Trustees Pauline, Jim & James Docherty 3 Contents Welcome Letters 2-3 Sponsorship 5 Scientific and local organising committee pictures 6 Session chairs pictures 7 Venue information & Map 8 Floorplan of Windsor Building 9 Wi-Fi and Internet information 10 NCL2012 Scientific Programme overview 11 NCL2012 Scientific Programme details 12-16 Microphone carriers 16 NCL2012 Satellite Programme overview 17-18 NCL2012 Satellite Programme details 19 Patient Organisations Programme 20-21 Science Summary sessions 21 Market Place 22 Presentations and Prizes 23 Welcome presentations W1-W3 Oral Presentations O1-O50 Poster presentations P1-P63 Author List i-xi Participant list xii-xvii Additional Saturday participants xviii Appendices of useful information Conference venue Ai Travel information Aiii Summary of new NCL classification nomenclature Aiv Clinical Summaries Av-Ax Diagnostic Algorithm Axi Resources Axii Previous NCL meetings Axiii Useful links and contacts Axiv 4 Sponsorship We thank the following organisations for their generous support of NCL2012: University College London - supported by the UCL Public Engagement Unit - funded by HEFCE, the UK Research Councils and the Wellcome Trust as part of the Beacons for Public Engagement initiative Batten Disease Family Association (UK) Batten Disease Support and Research Association (USA) Children’s Brain Diseases Foundation (USA) Bee for Battens (Eire) – including the abstract book Beyond Batten Disease Foundation (USA) Beat Batten Foundation (Netherlands) National Institutes of Health – for travel for USA attendees International Society for Neurochemistry – including travel support Company of Biologists (UK) – for the Session ‘Disease Mechanisms’ The Genetics Society (UK) – for sponsorship of all Poster Sessions Ipsen Fund (UK) – for the talk by Prof Andrea Ballabio BioMarin, Genzyme, Shire HGT 5 Scientific committee and Local organising committee Local Organising Committee Jon Cooper Sara Mole Ruth Williams Hannah Mitchison Brenda Williams Claire Russell Guy Tear Andrea West Heather Band Scientific Organising Committee Jon Cooper Sara Mole Ruth Williams David Pearce Mark Sands David Palmer Thomas Braulke Jaana Tyynelä 6 Session Chairs Session 1 Genetics & Cell Biology Session 2 Disease Mechanisms Sara Mole Thomas Braulke David Palmer David Pearce Session 3 Links to other diseases Session 4 Recent Research Findings Fran Platt Steve Walkley Anu Jalanko Hannah Mitchison Session 5 New Clinical Perspectives Session 6 Experimental Therapies Angela Schulz Jonathan Mink Beverly Davidson Mark Sands Session 7 Shared with Patient Organisations Andrea West Sara Mole Jon Cooper Ruth Williams 7 Venue information - Royal Holloway College and Windsor Building All events except some meals and social occasions will be held in the Windsor Conference Centre, with our reception and ‘Banquet’ (informal dress) held in the Founder’s Building. Most accommodation is in Tuke Hall (double rooms) and Reid Hall (single rooms). Breakfast will be served in ‘The Hub’ and lunches will be in the Windsor Building. Evening meals will be in the Founder’s Building or ‘The Hub’. Our ‘Pub Social’ will take place in ‘The Medicine Bar’, which is also open each evening. There is also a quiet area beneath The Hub, called ‘Imagine’, which is set aside primarily for families and parents. There is a Campus shop, which sells newspapers and a Bank with ATM machines. If you get lost please follow the signs displaying the NCL2012 logo or ask Conference staff for directions. There is further more detailed information in an appendix on page Ai 8 Floorplan of Windsor Building 9 Conference Wi-Fi and Internet Information Conference Wi-Fi is provided free of charge in the Windsor Conference Centre and a free wired connection is also available in your room (although
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