How has NA research progressed since 2001?
Where has research into NA come since the early days? In July, Adrian Danek met the NA trustees for tea in central London and took the opportunity to update the Advocacy Board about our history and research endeavours. Nancy Glynn, Sheila Peskett, Deborah Kempson-Wren, Neil Price and Ginger Irvine heard the presentation with interest. You can see the full presentation at that link: it provides a broad overview from the first identification and of the ChAc gene (VPS13A) and publication in 2001.
Thank you, Adrian, for this overview. We have come so far and look forward to the next research challenges with good reason for hope.
The 9th International Symposium on Neuroacanthocytosis Syndromes set for Dresden
Preparations continue for the 9th International Symposium on Neuroacanthocytosis Syndromes in Dresden, Germany, March 23-25, 2018. It follows eight previous international symposia, the last of which was held in Ann Arbor, USA in 2016. The 2018 meeting will be hosted at the Radisson Blu Park Hotel & Conference Centre, Dresden Radebeul
The 9th Symposium brings together basic and clinical neuroscientists and neurologists to address new discoveries in this expanding field. There will be a particular focus upon important developments in basic science since 2016 (including lower organism, animal and cell models; and disease pathways), in addition to the potential clinical translation of experimental treatments developed in vitro.
Deadline for abstracts is January 1st 2018; researchers and clinicians with questions about presenting should contact meeting Chair Prof. Andreas Hermann
Young faculty and students in particular are encouraged to attend and to present their work during the poster session.
Patients and caregivers continue to play a critical role in this process, and we will discuss together the next steps, action points, and future studies. This is a collaborative process involving researchers, clinicians, patients, and caregivers, in our quest to advance knowledge and practice.
For the latest information on topics and running order, including a detailed agenda, please see the Symposium website
Funding awarded for autophagy research
The Advocacy has recently agreed to fund a research grant requested by Ricardo Escalante at the Biomedical Research Institute Alberto Sols in Madrid. The title of the Project is VPS13A and autophagy, possible connections and preclinical studies and will be overseen by Sandra Muñoz Braceras who has been working in Ricardo's lab on the beginning of the this project while completing her PhD this last year. Sandra is a very talented young scientist who has devoted her thesis to VPS13A research and autophagy. She has also worked in Dresden with Andreas Hermann.
Ricardo says, “We have a funded project from our Spanish National Grant Agency (from January 2016 to December 2018) entitled Molecular mechanisms of autophagy with a focus on rare diseases related to the proteins VPS13 and WIPI. Our Institute has all required infrastructure and facilities to support high quality research." Sandra’s work will be supported by the Advocacy within the lab with work undertaken by Ricardo.
New collaboration follows NA talk at Ohio State University
A new collaboration to look at data about NA dating to the 1960s is to be undertaken following a talk earlier this year at Ohio State University by Adrian Danek. One of the earliest descriptions of what is now called neuroacanthocytosis was the subject of discussion after a guest lecture Adrian Danek gave at the university in Columbus, Ohio in March 2017. Adrian spoke about "Neuroacanthocytosis, an overview (McLeod syndrome and chorea-acanthocytosis)" during Neurology Grand Rounds, on the invitation of Prof. Douglas Scharre.
Advocacy appoints two new Trustees
We're happy to announce two new Trustees to the Advocacy: Bella Starling and Deborah Kempson-Wren.
Bella Starling PhD FRSA is a Wellcome Engagement Fellow. Her role is as Director of Public Programmes, Central Manchester NHS Trust and she is an Honorary Research Associate at the University of Manchester.
Deborah Kempson-Wren received her BA Hons 1st class from Sussex University and Masters in both Public Administration and Executive Coaching and Mentoring, the former in Australia and the latter in London. Her work has been varied and in different sectors.
Read on to learn more about the latest additions to the Advocacy team.
Thanks to outgoing Trustee Louise Dreher
We'd like to extend our thanks to Louise Dreher, who has now completed two three-year terms as a Trustee for the Advocacy. Louise, an Englishwoman living near Frankfurt/Main, was a good friend of patient Peter Ball at Aston University in Birmingham. We originally met through Louise's generous support of the Advocacy when Peter died, and Louise has since made a big contribution by translating material into German and keeping contact with German patients as an Advocate.
Furthermore, Louise has demonstrated deep dedication and exercised great conscientiousness as a Trustee. She cares deeply about supporting patients and research and actively kept herself up to speed on the many aspects of financing research, as well as the ongoing sharing of treatments and care giving for patients and thier families. We thank her for her attentive work as a Trustee and her rigour in reading all the documents and minutes, helping to ensure that we fulfil our duties as Trustees. Louise will continue to act as an NA Advocate to German speaking patients and their families. Thank you, Louise!
Help the voice of rare disease patients be heard
EURORDIS, the European Organisation for Rare Diseases, is launching a new project of interest: Rare Barometer Voices. This initiative aims to strengthen the voice of rare disease patients in Europe. By transforming your opinions and experiences into facts and figures that can be shared with European level policy makers and other influential figures, they will be made aware of the actions that need to be taken for the rare disease community in Europe and make changes that directly affect you. It will also help the Advocacy in our work to raise awareness about the impact of living with a rare disease.
To add your opinions and experiences to the voice of rare disease patients, see the website www.eurordis.org/content/contribute-rare-barometer-programme and register for Rare Barometer Voices.
After registration you will be sent an email to request your participation in each new survey related to subjects that concern you. You are free to decide which surveys you want to participate in. Please note that the responses to these surveys are completely confidential, owned by EURORDIS (a non-profit organization) and will not be used for commercial purposes.
Teresa Zoladek published in Human Molecular Genetics
Teresa Zoladek of the Polish Academy of Sciences has published an article in Human Molecular Genetics: "Amino acid substitution equivalent to human chorea acanthocytosis I2771R in yeast VPS13 protein affects its binding to phosphatidylinositol 3-phosphate." The article is available online here. A review article, "Yeast and other lower eukaryotic organisms for studies of Vps13 proteins in health and disease," can be seen in Traffic 2017;18:711–719. https://doi.org/10.1111/tra.12523
New article highlights vital importance of brain donation
A recent article published by Ruth Walker and colleagues in the journal Neuropathology and Applied Neurobiology sheds light on the cause of seizures in some people with chorea-acanthocytosis. Investigators from NIH and Mount Sinai School of Medicine, New York, examined the brain of a person who was affected with ChAc following his death. In addition to loss of neurons in the basal ganglia, the area which is known to be affected, they found degeneration of neurons of the hippocampus, and area which is often the source of seizures. Abnormalities in this area have been seen on brain scans of people with ChAc and seizures, but this report shows how this area is actually affected. This information may help neurologists better control seizures in people with ChAc.
This report also helps emphasize the importance of brain donation for increasing scientific knowledge of rare diseases. See the article at https://www.ncbi.nlm.nih.gov/pubmed/28398599: "Hippocampal sclerosis and mesial temporal lobe epilepsy in chorea-acanthocytosis: A case with clinical, pathologic, and genetic evaluation," Mente K, Kim SA, Grunseich C, Hefti MM, Crary JF, Danek A, Karp BI, Walker RH, Neuropathol Appl Neurobiol. 2017 Apr 11. doi: 10.1111/nan.12403.
Ginger & Alex Irvine meet Ernesto Montero
In September Alex and Ginger had a visit from Ernesto Montero who was in the UK for a show at the Saatchi The Other Art Gallery in Bristol. He spent a couple of days in London visiting art galleries and bringing us up to date about the family. Mario and David are still enjoying the swimming pool Ernesto built in their back garden. Ernesto is hoping to attend the Dresden meeting, perhaps with one of his brothers and mother. We congratulate Ernesto on the success of his artwork: Christina Liu visited Ernesto in Spain and bought one of his paintings!
Mark Williford with his grandchildren
Mark Williford continues to do water aerobics 3-4 times per week, thanks to a dear friend who provides transportation. Mark's wife Joy provides transportation for the grandchildren daily. Grandson Cooper wants to help with fundraising for NA research and they will likely plan an event around Rare Disease Day, February 28, 2018 - an idea for us all! They are planning to come to Dresden in March, when Joy will lead a session for patients and families.
Start posting your Rare Disease Day 2018 events now
It's less than 100 days before Rare Disease Day 2018, and the perfect time to post your fundraising event news on the Rare Disease Day website https://www.rarediseaseday.org. For any questions on how to use the site, please email firstname.lastname@example.org
Are you running a fundraiser? Don't forget to let the Advocacy know. Joy and Mark in Florida are supporting a grandson who wants to raise funds for NA, and perhaps some of you could do the same! If you haven't explored the Rare Disease website, it's a treasure trove of ideas. We'd encourage the entire NA comunity to visit the site and explore news about the day, events worldwide, information on how to get involved and up-to-date news. There are lots of ideas here for fundraising, and as always, anything you raise for NA will be devoted to the research projects that are part of our concerted efforts to understand more about NA and how to fight it. Visit https://www.rarediseaseday.org
North Wales report on latest fundraisers
Gill and Gordon Parry in North Wales have again been busy attending fairs and raising funds for NA. Recently a cheque for £5000 was deposited in our account from numerous events over the last year. The photo shows their table at.the Tithe Barn in Hawarden where they raised £555 - well done! The banner in the photograph reads: “In aid of Neuroacanthocytosis.” More hard work will come in Llangollen followed by the big event in St Giles Church in Wrexham in December. Our heartfelt thanks for their continuous efforts on our behalf; we salute you.