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Welcome to Issue 34

COVID-19It is our wish that this newsletter finds you in good spirits in spite of the adversity that this global crisis has visited upon the world and our community. These extraordinary times have led to unexpected challenges and unwelcomed disruptions in each of our lives, but hopefully it's also delivered a greater appreciation for our loved ones and for those who enrich our day-to-day lives.

 

We greatly hope that you have been spared the most serious effects of this outbreak and that you have been able to access important and resources through your medical health care professionals and community. For those seeking more information, you may find a visit to rare disease organisation websites helpful.

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Dr. Jae-Sook Park awarded £5,000 Glenn Irvine Prize

Dr. Jae-Sook ParkThe Advocacy has now awarded GBP 5,000 to the worthy recipient of the first Glenn Irvine Prize, Dr Jae-Sook Park from Dr. Aaron Neiman’s lab at Stony Brook, Long Island, NY, USA, who has devoted herself to expanding knowledge of the VPS13 protein, the function of which promises to shed critical insight into NA syndromes.

 

In addition to recognising an individual for outstanding achievement, the Prize is intended to encourage further work in the study of neuracanthocytosis.

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Recognising Rare Disease Day 2020 in London and Warsaw

Advocacy for Neuroacanthocytosis Patients V & A tour London Rare Disease Day 2020This year Rare Disease Day fell on that very rare day, 29 February 2020. We enclose here two reports of NA Advocacy events, one at the Victoria and Albert Museum in London and the other at the Institute of Biochemistry and Biophysics of the Polish Academy of Sciences.

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Neuroacanthocytosis Advocacy USA holds inaugural meeting

Susan Wagner sends us this report of the newly formed non-profit Neuroacanthocytosis Advocacy USA, Inc. "The organization held their first board meeting on May 15, 2020, via Zoom. All members were in attendance: Joy Willard-Wilford (pictured), Bob Metzger, Dr. Ruth Walker, Ginger Irvine and myself, Susan Wagner. We are a group of patients, caregivers and a research/physician. You will eventually find us on the same website as the original Neuroacanthocytosis Advocacy, sharing the same mission to support patients and their caregivers, in addition to furthering Neuroacanthocytosis research.

 

"As a USA Non-Profit 501(c)(3), Neuroacanthocytosis Advocacy USA, Inc, qualifies to apply for USA based grants and participate in fundraising with donations to be tax-exempt. We are still in the starting gate, but as we progress we will keep you posted through the Neuroacanthocytosis Advocacy website and NANews. You may reach us at swagner7523@outlook.com Special thanks to both, Joy Willard-Willford working through the tedious application and the financial processes, and to Ginger Irvine, for the motivation and perspective to form the Neuroacanthocytosis Advocacy USA, Inc."

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RESEARCH UPDATE - Adrian Danek and Gabriel Miltenberger-Miltenyi , Munich ¦ Teresa Zoladek, Poland,

Dr Danek & Dr MiltenbergerLearn about the recent progress of NA researchers around the world who are investigating the causes, mechanisms and pathology of the NA group of diseases. 

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McLeod Syndrome: a review by Professor Adrian Danek

McLeod SyndromeWhile McLeod syndrome is much rarer even than Chorea-acanthocytosis, it appears as if the methods of next-generation sequencing allow more patients to be diagnosed. This is at least the impression of Adrian Danek at the Neurology Department at the University of Munich and of his colleagues at its neuromuscular unit (Friedrich Baur Institute). He had cared for a Munich patient and his brother almost thirty years ago but no other patients were diagnosed until 2018. In the last year, however, three new patients, men in their fifties who had presented with peripheral nerve and muscle issues, received a diagnosis of McLeod syndrome on the basis of genetic panel testing which was confirmed by immunohematological testing for the McLeod phenotype.

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Why NA research needs geneticists

GeneticsIf you've ever wondered how the work of geneticists is essential to the ongoing research supported by the NA Advocacy, Gabriel Miltenberger-Miltenyi included this description of the geneticist's role as part of a presentation he gave in April.

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PATIENT NEWS - Drew Smith ¦ Tracy Ghoris ¦ Manon Sauvigeau ¦ Susan Hills ¦ Bob Metzger ¦ Alex Irvine

Bob MetzgerRead a selection of updates, including pictures and creative projects, from NA patients around the world.

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In Memoriam: Ed Ayala

Remembering Ed AyalaWe were sad to receive news of the death of NA patient Ed Ayala. 

 

Our beloved Edwin Ayala, known as Ed or Eddie to family and friends, 50, of Norton, Massachusetts, passed away June 17, after a long battle with Chorea-acanthocytosis. He was born June 25, 1969 to parents Pedro Ayala and Marta (Rodriguez) Ayala in Boston. Ed graduated from Brockton High School in 1987 and proudly served his country in the United States Army. He married the love of his life, Loida in 1995.

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A poem: Oh ChAc, Oh ChAc

acanthocytesOh ChAc, Oh ChAc is a poem written by one of our readers...

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In this issue
New date set for 10th NA Symposium
Welcome to Issue 34
Dr. Jae-Sook Park awarded £5,000 Glenn Irvine Prize
Recognising Rare Disease Day 2020 in London and Warsaw
Neuroacanthocytosis Advocacy USA holds inaugural meeting
RESEARCH UPDATE - Adrian Danek and Gabriel Miltenberger-Miltenyi , Munich ¦ Teresa Zoladek, Poland,
McLeod Syndrome: a review by Professor Adrian Danek
Why NA research needs geneticists
PATIENT NEWS - Drew Smith ¦ Tracy Ghoris ¦ Manon Sauvigeau ¦ Susan Hills ¦ Bob Metzger ¦ Alex Irvine
In Memoriam: Ed Ayala
A poem: Oh ChAc, Oh ChAc
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