December 6 is your once-a-year chance to double your donation to NA research
The Big Give is an annual challenge which provides more than more than £1 million to match donors' gifts to charities like the NA Advocacy. Can you support us with any amount on December 6? Here are eight important facts you need to know about the Big Give 2012.
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Sixth NA Symposium features new clinical, research and patient insights
The sixth international symposium of researchers and clinicians involved in the study of neuroacanthocytosis took place in late October, offering compelling insights and also underscoring the need for patients and clinicians to work together on data collection.
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Symposium Report: Days two and three at Ede
The second and third days were a joint meeting with colleagues from the NBIA community. Dr. Ruth Walker introduced the clinical aspects of NA and Dr. Susan Hayflick gave an overview of the NBIA diseases to provide a context for the researchers who have recently started work in these fields.
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Patient Update
David Nicholson reports that since his DBS surgery last year, "I am much better and can go out of the house and do things thatI couldn't have done before." Mardi Williams who resides in Brisbane, Queensland, Australia tells us she has been visiting with her nephew Joshua and niece Gabrielle. Froukje Vlestra and her friend Arend Eedema made the journey from the north of The Netherlands to attend the afternoon session of the Symposium. Lastly, Pete Clark who lives in Essex has met with Alex and Glenn Irvine in London and reported how he spent this year.
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Our thanks to Francesca Roberts, Board of Trustees member
We are very grateful to Francesca Roberts who will retire from the Board of Trustees in December at the end of her 3 year term. Francesca has given the NA Advocacy the benefit of her years of experience with an international relief charity as well as an English medical foundation. She now is Chief Executive of CRASH, the British construction and property industry's charity for homeless people that focuses on improving the buildings used by homeless people.
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Research Update
This issue we look at 'The role of XK protein in Erythrocyte ion transport function', 'Vps13A regulation of phosphatidy linositolphosphate pools in mammalian cells', 'Functional analyses of ion channels in Chorea-Acanthocytosis (ChAc) patient-derived induced pluripotent stem cells and differentiated neurons in vitro' and 'In vitro modelling of Chorea-acanthocytosis (ChAc): Patient fibroblasts and their reprogrammed derivatives as human models of ChAc'.
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Genetic testing of ChAc patients: the trouble with DNA analysis
We have become aware of the fact that patients, or their relatives, clinically diagnosed with ChAc may be using commercial services to have a molecular confirmation of the diagnosis. During the last NA/NBIA meeting in Ede (The Netherlands), we received an email from a man whose daughter had just been diagnosed with possible ChAc. For particular circumstances, several members of the family had had their DNA analysed by 23andme, and he was trying to find out if the genetic information they got was enough to confirm the diagnosis of ChAc given to her daughter.
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