NA research extensions agreed
The Advocacy's Board of Trustees has agreed to continue support of two research projects:
Lucia De Franceschi will receive aid furthering the pursuit of her proposal, "Targeting the link between autophagy and Lyn to identify new therapeutic options in chorea-acanthocytosis."
Adrian Danek will receive support for his work "Diagnostic chorein Western blot "(continuation) for the period Jan-Dec 2017.
The Board looks forward to further reports from the researchers on their discoveries.
News from EMINA: Fresh application submitted for EU grant
A group of scientists working on chorea-acanthocytosis has again applied to obtain funding under a call for European rare disease research projects (E-Rare JTC 2017).
Abbreviated as “EMINA-3”, a consortium led by Andreas Hermann, Dresden, attempts to continue the successful work of the group of laboratories known as “European Multidisciplinary Initiative on Neuroacanthocytosis.” Now, discovery of agents for causal treatment is the immediate aim, as no curative treatment is available for ChAc.
Miami talk on NA at International Parkinson Disease and Movement Disorder Society
Dr. Ruth Walker gave a talk in Miami in February, “Huntington’s Disease-Like 2 and Other Huntington’s Disease-Like Diseases in the Americas.”
Her talk was part of the first meeting of the Pan-American Section of the International Parkinson Disease and Movement Disorder Society. In addition to describing the features of these diseases, she showed maps of the Americas illustrating the locations of all the people we know to be affected by these disorders, either by clinical testing, from published reports, or from individual communications.
The talk was well-received, and following it she heard from a number of physicians taking care of people who might have one of these diseases. Ruth also had the opportunity to highlight the role of the Advocacy in internationally connecting patients and families affected by NA.
Ody Sibon published in PLOS
Ody Sibon told us she has had her article "Drosophila Vps13 Is Required for Protein Homeostasis in the Brain" published in PLOS, a nonprofit Open Access publisher which enhances research communication. Ody has been working on NA, NBIA and with other European consortiums at the University of Groningen in the Dept of Cell Biology. Thank you, Ody.
Adrian Danek to attend NBIA Conference in April
On 7-8 April Adrian Danek will be the NA representative to the 6th International Symposium on NBIA and Related Disorders in Stevenson, Washington State, USA. Researchers studying NBIA and similar neurological disorders will be sharing the latest advances in their work at the symposium. Meeting highlights include discovery updates on NBIA disorders, advances in therapeutics for NBIA, poster sessions and round table discussions.
NA's symposia have been held three times in conjunction with NBIA. Adrian's attendance will elicit new information about the NBIA group's projects and research, and it may help facilitate new collaborative projects between the NBIA and NA fields in the future, including the possibility of a joint meeting in Germany. A report will follow in the next NA News.
Final scientific report of the ChAc Meeting in Ann Arbor now online
The final scientific report of the Eighth International Chorea–Acanthocytosis Symposium in Ann Arbor was printed in Tremor and Other Hyperkinetic Movements Journal on February 15, 2017. We thank Roger Albin, Samuel Pappas and others for their contributions to this report, available online - Summary of Workshop Discussion and Action Points.
Doda Rudnicki to join NCATS at National Institutes of Health
Researcher Doda Rudnicki, who has worked with Advocacy support for 5 years at Johns Hopkins University in Baltimore Maryland, USA, writes to say that she has made the decision to leave academia and join the National Center for Advancing Translational Sciences at National Institutes of Health. "I am still adjunct faculty at Hopkins and I still have work to finish and papers to publish," she writes. "However, I have moved my family to the Potomac and my job now is to advance development of therapies by developing programs that would enhance collaboration between government, academia and industry.
Florian Wegner published in the Journal for Neuroscience
From Hannover in Germany comes this report from Florian Wegner, published in the Journal for Neuroscience in November 2016. Florian has had a previous grant from the Advocacy for the project titled "Functional analyses of ion channels in chorea-acanthocytosis."
The new report, which records the continuation of this work, is titled: "Neuronal Dysfunction in iPSC-Derived Medium Spiny Neurons from Chorea-Acanthocytosis Patients Is Reversed by Src Kinase Inhibition and F-Actin Stabilization."
A reviewer of the paper commented, "The availability of a model system of human Chorea-Acanthocytosis is a huge advance."
Lucia De Franceschi published in Blood
Lucia De Franceschi has informed us that her report, "A new molecular link between defective autophagy and erythroid abnormalities in chorea-acanthocytosis" has been published in Blood, an open access journal.
Lucia's work is also described on the Research Italy website.
We appreciate Lucia's continued application of her lab's work to our cause.
Bob Fuller published in the Journal of Cell Biology
Bob Fuller at the University of Michigan has informed us of the publication of his paper on the structure and function of the Vps13p-Cdc31p complex in the Journal of Cell Biology.
Bob was one of the organisers and presenters of the meeting in Ann Arbor last May and a long time supporter of the Advocacy.
Vivien and Eliut Rodriguez participated in the Huntington PR Food Truck Fest day in Puerto Rico in January. What a good idea for a fundraiser! Thanks. Click below for another photo.
Picture book concept helps with patient communication
David Nicholson and his carer Tina recently shared a wonderful communication aid Tina developed to help David describe what he wants when his voice is not working so well: a picture book. Read on to learn more.
Spotlight on: Tracy Ghoris' story
"I’m Tracy, 53, from Ohio and West Virginia. I was diagnosed with Neuroacanthocytosis in 2011 at Ohio State University’s Parkinson’s and Movement Disorders Clinic.
"Although waxing-and-waning orofacial, neck, shoulder, and thumb tics began at the age of 7, I didn’t have any other neurological problems until I was 41. I was still bike riding, ice skating, and swimming at 40. I enjoyed these activities as well as many others since childhood. Now I have difficulty just washing my hair.
Alex Irvine has been participating in a series of art classes organised by the local council for people with special needs; read on to learn more and see samples of Alex's work.
Ed Ayala's second book published
Ed Ayala's second book has been published. Here's what is written about it: "Author Edwin Ayala was diagnosed with the extremely rare and incurable condition called choreacanthocytosis in 2003. This is his story. The condition is so rare that little information on this disease is available, but here is a brief synopsis: known as ChAc it has no known cure and its cause is not definitively known. Difficult to diagnose, its symptoms include fatigue, loss of speech, weight loss due to involuntary biting of the cheeks and tongue, difficulty in swallowing, and involuntary muscle movement. To learn more about this progressive disease, visit www.naadvocacy.org or www.rareconnect.org."
Mark and Eric Williard
Joy Williford-Williard wrote recently: "Most every weekday, we have a wonderful family friend who accompanies Mark to the gym where they do water aerobics, followed by errands. He usually spends his afternoons reading and napping. Here's one of my favorite photos of our grandson Cooper with his 'Papa.'
Parallel London event offers fundraising opportunity
Here's a new opportunity in London to raise funds for NA research! Parallel London is an inclusive race event that offers many distances to challenge you: last year thousands of people participated in one or more of the five Parallel London challenges – 100m, 1km, 5km, 10km and Super Sensory 1km. If you know anyone who could participate on 3 September, please let us know, and we will make the connection with this charitable event. Contact firstname.lastname@example.org
North Wales plans future fundraisers
News from North Wales is always a treat. Gill Parry writes to say:
"On April 6th I have been asked to do a workshop on how to make organza brooches in the church hall in Llanberis which is at the foot of Mount Snowdon. With Gordon I will set up a sales table where we hope to raise more funds for NA.
"Two days later we will be running a cafe for the afternoon with friends helping. We will provide home made cakes, flowers for the table etc and again will have a sales table! There will be a number of cyclists and walkers passing through the village who will be tempted to eats lots of cake, drink lots of tea and coffee and and buy from our home goods table. The event will take place in a pretty little Welsh village called Cilcain."
We wish them well for good weather and huge numbers of buyers. Many thanks to Gill and Gordon Parry!