Welcome to NA News Issue 17
In this issue we're pleased to announce the Second Joint International Symposium on Neuroacanthocytosis and Neurodegeneration with Brain Iron Accumulation, this October. We also reveal the two research projects selected following the Advocacy's call for proposals in 2011, and we review progress on funded research to date including the 120 confirmed diagnoses that have resulted from the Advocacy sponsored diagnostic test. Please consider supporting NA fundraisers coming up this spring, including the London Marathon and Rare Plants for Rare Disease research. Let us know what you think of any article: just click below each story to comment.
Details revealed of October Symposium on Neuroacanthocytosis and NBIA
Details have been published of the agenda for the The Second Joint International Symposium on Neuroacanthocytosis and Neurodegeneration with Brain Iron Accumulation. Delegates will gather in The Netherlands from 26-27 October 2012 for "New breakthroughs in NA/NBIA - towards unravelling underlying mechanisms."
Winning grant applications announced by the Advocacy
A tremendous response was received to the Advocacy's call for research applications at the end of 2011. After review by our independent scientific panel, two of the seven research grant applications were approved for Aaron Neiman, Stony Brook University, New York and Florian Wegner, Alexander Storch and Andreas Hermann at Dresden Technical University. Additionally a third award was made directly by the family of NA patient Mark Williford to Alicia Rivera PhD at Children’s Hospital, Harvard Medical School, Boston.
New trustees join the Advocacy to augment business development capabilities
New trustees have joined the Advocacy: Eva Stock, originally from Boston and now living and working in London as Director of Sponsor Relations for FOCUS, brings marketing and business development expertise to the Board. Amin Somji, originally from Zanzibar and now in Kenya, is a Chartered Accountant whose experience will be invaluable to the Advocacy in planning for further growth.
NA Advocacy wins GlaxoSmithKline Rare Disease award
The Advocacy was honoured last month to receive a €1,000 prize and recognition from GlaxoSmithKline Rare Diseases in a competition that sought new perspectives on how novel medicines can be developed for the underserved population of rare disease sufferers. A paper by Glenn Irvine of the Advocacy was awarded one of seven shortlist awards by GSK.
In this update we report on progress from Lucia de Franceschi and Giel Bosman and from Alexander Storch, as well as an update on EMINA. Also in this issue is a list of recent articles published or at press from Föller et al, de Franceschi et al and Prohaska et al.
Free diagnostic service delivers 120 confirmed diagnoses of ChAc
Figures just released by Benedikt Bader's team have shown the effectiveness of the patient registry and the free diagnostic service supported by the Advocacy: in three years doctors have submitted 397 blood samples from 24 countries; the results are 120 positive diagnoses of chorea-acanthocytosis (ChAc). Of the 265 cases that clearly did not have ChAc, follow-up has frequently led to positive diagnoses of other conditions including McLeod syndrome, Lubag, MPAN, PKAN and neurodegeneration with brain iron accumulation (NBIA).
Gardeners unite for NA: London Marathon and "Rare Plants for Rare Disease Research"
Keen gardeners at opposite ends of the UK are organising dedicated NA fundraisers this spring. David Lewis, head gardener at the Virgin Roof Gardens Kensington, will run the London Marathon on 22 April; meanwhile Edinburgh gardening blog Stopwatch Gardener is sponsoring a sale of unusual plants, "Rare Plants for Rare Disease Research".
North Wales sponsored walk...Big Give update...Ruth Walker book royalties..London Four Men in a Boat...New series of London fundraising events...Hadrian's Wall trek
NA News makes a difference - kudos from our readers
We've received the following messages of support from readers who appreciate the Advocacy's work and the information they see in every issue of NA News. Thank you so much to all of you for sending us your feedback.
Corrections to Patients Special Issue of NA News
We apologise for the incorrect labelling of our cover page for the special patients' edition; the In Memoriam section should read: "From Australia, Rob's sister Raine Petersen encourages you to get in touch if you'd like to talk about families and NA".
In the Americas' section Kristi Curtis wrote about a speech therapy which should be noted is the Silverman technique not the Sullivan technique. More information can be found on their website: http://www.lsvtglobal.com/
We do make corrections on the on-line page so if you wish to refer to it or pass it on to someone you know, visit NA News Corrections