NA News - NA News Issue 50 - $73,000 Raised | New Research Puerto Rico | Partners in Progress | 12 Symposium Proceedings | 24 VPS13 Forum | Research Advisory Committee | XK Blood Donation | Patient Fundraiser | Strategic Plan | Seeds of Support

NA News - NA News Issue 50 - $73,000 Raised | New Research Puerto Rico | Partners in Progress | 12 Symposium Proceedings | 24 VPS13 Forum | Research Advisory Committee | XK Blood Donation | Patient Fundraiser | Strategic Plan | Seeds of Support | New Trustees http://newsletter.naadvocacy.org/ 50 Editions Strong | $73,000 Raised | New Research Puerto Rico | 12 Symposium Proceedings | 24 VPS13 Forum | Research Advisory Committee | XK Blood Donation | Patient Fundraiser | Strategic Plan | Partners in Progress | Seeds of Support | New Trustees en-us 26 Feb 2026 09:46:03 GMT 26 Feb 2026 09:46:03 GMT http://newsletter.naadvocacy.org/rss.xml Newsweaver ginger@naadvocacy.org (The Advocacy for Neuroacanthocytosis Patients) support@newsweaver.ie (Newsweaver) 60 true TOP STORY - 50 Editions Strong http://newsletter.naadvocacy.org/11jutgr0wuq?lang=en?rss=true Welcome to this 50th anniversary edition of NA News! We look back at 23 years worth of news before we're sharing the latest updates. From the remarkable $73,000 raised in Mark Williford's memory to groundbreaking new research in Puerto Rico, from our published 12th Symposium proceedings to the 24th VPS13 Forum insights, there's so much to share. We're also excited to announce our new Research Advisory Committee, share an inspiring story of XK blood donation, provide updates on our strategic plan, launch our Partners in Progress monthly giving program, and celebrate Sheila's garden gaining national attention. We're also looking for new trustees so check out the details of each role. Read on and enjoy ... 22 Feb 2026 12:00:00 GMT 22fb8779553905bf895ecc59cefe0287 Feature Article 50 Editions Strong: A Journey of Connection, Hope, and Progress Despina Dinca & Ginger Irvine <img align="middle" src="https://newsletter.naadvocacy.org/v3files/shard1/491/ee/f12cc06992db7bd9205ddf.jpg" style="margin: 2px;" width="609" height="462" hspace="2" vspace="2" alt="Cover of the first issue of NA News from 2003">   Welcome to this 50th anniversary edition of NA News! We look back at 23 years worth of news before we're sharing the latest updates. From the remarkable $73,000 raised in Mark Williford's memory to groundbreaking new research in Puerto Rico, from our published 12th Symposium proceedings to the 24th VPS13 Forum insights, there's so much to share. We're also excited to announce our new Research Advisory Committee, share an inspiring story of XK blood donation, provide updates on our strategic plan, launch our Partners in Progress monthly giving program, and celebrate Sheila's garden gaining national attention. We're also looking for new trustees so check out the details of each role. Read on and enjoy ...  When NA News was first launched in 2003 - a year after the charity was founded by Ginger and Glenn Irvine - the vision was simple: to create a bridge between research and reality, between scientists and families, between isolation and community. When Alex Irvine was diagnosed back in 1999, there was little to no information about neuroacanthocytosis (NA) syndromes either online or offline. Today we call them VPS13A disease and XK disease, but they’re also recognised as chorea-acanthocytosis, and McLeod syndrome.   50 editions later, that bridge initiated in 2003 has become a useful and unique resource for people affected by NA syndromes worldwide, connecting them with the knowledge, support, and hope they need to navigate their journey.   This milestone edition arrives at a meaningful moment, just before 28 February, the International <a href="http://newsletter.naadvocacy.org/18t1brmvl7h/external">Rare Disease Day</a>, reminding us why this work matters. In a world where around 3,000 people are estimated to live with VPS13A or XK disease, every connection counts. Every research update shared, every patient story told, every practical tip offered has the power to change someone's day, their outlook, or even their care. And together, we've done this fifty times over.   What We've Achieved Together The statistics tell our story of growth and impact: <ul style="margin-top: 0cm; margin-bottom: 0cm;" type="disc"> <li style="margin-bottom: 0cm; margin-top: 0cm; margin-right: 0cm; line-height: 115%; font-size: 13px; font-family: Tahoma, Arial, Helvetica, sans-serif;">100+ patients supported worldwide over more than two decades</li> <li style="margin-bottom: 0cm; margin-top: 0cm; margin-right: 0cm; line-height: 115%; font-size: 13px; font-family: Tahoma, Arial, Helvetica, sans-serif;">Over 30 research projects funded, advancing our understanding of VPS13 proteins, their mechanisms and bringing us closer to better therapies</li> <li style="margin-bottom: 0cm; margin-top: 0cm; margin-right: 0cm; line-height: 115%; font-size: 13px; font-family: Tahoma, Arial, Helvetica, sans-serif;">2 EU funded grants, advancing the European multidisciplinary initiative on NA syndromes</li> <li style="margin-bottom: 0cm; margin-top: 0cm; margin-right: 0cm; line-height: 115%; font-size: 13px; font-family: Tahoma, Arial, Helvetica, sans-serif;">12 International Symposia convened, bringing together researchers, clinicians, patients, and families from around the world</li> <li style="margin-bottom: 0cm; margin-top: 0cm; margin-right: 0cm; line-height: 115%; font-size: 13px; font-family: Tahoma, Arial, Helvetica, sans-serif;">24 VPS13 Forums held since 2021, fostering global scientific collaboration and knowledge exchange</li> <li style="margin-bottom: 0cm; margin-top: 0cm; margin-right: 0cm; line-height: 115%; font-size: 13px; font-family: Tahoma, Arial, Helvetica, sans-serif;">3 Glenn Irvine Prize awarded since 2020, recognising outstanding contributions to VPS13 research, with £5,000 awarded to support each young scientist</li> <li style="margin-bottom: 0cm; margin-top: 0cm; margin-right: 0cm; line-height: 115%; font-size: 13px; font-family: Tahoma, Arial, Helvetica, sans-serif;">3 published books, summarising research findings and looking at possible new avenues to explore in understanding the NA mechanisms   </li> <li style="margin-bottom: 0cm; margin-top: 0cm; margin-right: 0cm; line-height: 115%; font-size: 13px; font-family: Tahoma, Arial, Helvetica, sans-serif;">An average of 420 readers per editionacross Europe, North, Central and South America, Australia, Asia and Africa, proving that our small community has global reach</li> <li style="margin-bottom: 0cm; margin-top: 0cm; margin-right: 0cm; line-height: 115%; font-size: 13px; font-family: Tahoma, Arial, Helvetica, sans-serif;">Our <a href="http://newsletter.naadvocacy.org/1nvvrb1nu0m/external" target="_blank" rel="noreferrer noopener">sister organisation</a> based in USA was created in 2019.</li> </ul>   As some of the early editions are being digitalised into our online archives, we’ll also be able to count the patient stories and perspectives shared over 23 years, as well as the patient-oriented sessions and articles delivered during this time.   While the numbers alone don't capture what these 50 editions have truly meant, we are keen to acknowledge that behind every statistic is a person: a researcher working late in the lab, a family member searching for answers after a relative received the diagnosis, a patient finding comfort in knowing they're not alone, or a carer discovering a practical tip that makes tomorrow a little easier.    The Generosity That Makes It All Possible None of our work happens without the remarkable generosity of our donors, supporters, and fundraisers. Over 50 editions, we've had the privilege of celebrating numerous fundraising initiatives ranging from creative, to daring, to entertaining, to challenging. Not only did they raise significant amounts of money who enables us to continue our work and support research, but they also raised the awareness about the conditions and increased the community support.    The fundraising events, to name just a few, span from marathon runs, dinners, selling hand-made cards, collecting Alex’s water paintings and limericks into a book, and Sheila’s garden open day in East Lothian (she’s already planned another one on 24/25 April 2026!), our patients and supporters have shown extraordinary creativity and dedication in championing our cause.   We've been humbled by major donors – including the Pforzheimer family and the Parry family, whose support has been unwavering since our earliest days – and moved by the generosity of individuals who give what they can, when they can.   Every contribution, whether from long-standing supported or those who’ve joined us more recently, has left its mark on these 50 editions and on the lives of everyone we serve. To each and every one of you who has given your time, your resources, and your heart to NA Advocacy: thank you! You are as much a part of this story as the science itself and we are grateful you believe in our vision and trust us to make a difference.   Voices from Our Community We are honoured to receive feedback from the community each time we send out a new issue. Here’s a selection of messages we received in the most recent years (sorry we can’t quote them all).   #36, July 2021 “You (and Glenn) have laboured in the field a very long time. It was only when I saw on Facebook that you were 78 this past birthday that I wondered how long you planned to carry on. (I was thinking you lots younger, if that helps. 😊 ) I cannot adequately express the depth of my gratitude to you and Glenn for taking up this cause so many years ago, and for the gift of yourselves to improving treatments and finding cures. “ Joy   “Once again - informative, creative and altogether top notch.” Betty   “Several of the articles are really encouraging, eg research, speech/physio, NA-USA and more.  When the research is written specially for the layman like in this issue (and often in previous ones too!), it really makes a huge difference in my opinion as to whether non-specialist readers get the gist as a result. NAN 36 also shows how effective the coordinated effort is overall, again in my opinion absolutely desirable with such a rare disease.” Louise   #38 - February 2022 “Dear Ginger, it remains true that without the tireless efforts of you and Glenn, things would not be so coordinated or advanced.” Louise   #43 – November 2023 “Dear Ginger, I am so pleased to read the articles you sent us. You and Glenn rightly deserve rewards. I hope he can see and enjoy this from where he is. Your energy and patience are recognized . You both managed to start an amazing group of people in different fields, different countries, different vocations. Enjoy this moment on your journey. I always admired both of you and your dedication on a difficult task.” Anne   #46 – November 2024 “I've just received my NA News and wanted to congratulate you on many fronts. […] Congratulations to everyone involved in the putting together of the newsletter. It has a very nice feel about it, and is so competently reported and edited, to a very good and professional standard. I know how hard it is to do this properly and you can spot the difference a mile off." Patricia   “The last issue is amazing! Particularly glad that you have the agreement with the US organization … The life stories are so well presented and I’d love to hear Alex’s poetry …” Betty   “It’s good - and not at all surprising! - to see that you’re still out-and-about and very busy pursuing your mission! And I’m sure that it continues to dig ever deeper - and bear new fruit!” Mary   "I have just read your most recent newsletter. Loved hearing about your new partnership. Alex:  I enjoyed hearing/seeing your new voice lessons.   Go Girl!  as we say in the US … Peter Clark is an inspiration to us all.”  Barbara   #48 – July 2025 “Great newsletter ... and very easy to navigate!” Carl   #49 – December 2025 “Another interesting and thought-provoking Newsletter. Thank you.” Susan     The Road to #100 As we mark this milestone, we're energised by what lies ahead. Our 2025-28 Strategic Plan is taking shape, as you’ll read in our article below. We are already working on the 13th International Symposium which will take place in Warsaw, Poland in 2027.   The Partners in Progress monthly giving program is looking to building sustainable support for our work. Research continues to unlock mysteries about lipid transport and VPS13 proteins. And most importantly, our community continues to grow more educated, stronger, more connected, and more empowered.   The next 50 editions will bring new discoveries, new faces, and new hope. We'll continue to share cutting-edge research in accessible language, celebrate community achievements, provide practical support, and advocate tirelessly for better diagnosis, care, and ultimately, treatments and cures for VPS13A and XK diseases.   None of this would be possible without you, our readers, contributors, researchers, donors, volunteers, and advocates. You are the heart of NA News, and this milestone belongs to every one of you!   Thank you for reading, for sharing, for supporting, and for believing in a future where NA syndromes are well understood, effectively treated, and no one faces them alone.   Here's to the next 50 editions, and to the progress we'll make together! 🎉 Rare diseases currently affect 5% of the worldwide population - Rare Disease Day 2026 https://newsletter.naadvocacy.org/v3files/shard1/491/18/23f4aa50a150176135d0da.jpg Results of Fundraiser in Memory of XK Patient Mark Williford http://newsletter.naadvocacy.org/11u6q4twtyt?lang=en?rss=true Joy Willard-Williford shares results of fundraising effort in memory of her late husband, Mark Williford, an XK patient. 20 Feb 2026 12:00:00 GMT 66e51e570c1df51ce5a46212adbce7aa More News Over $73,000 Raised! Joy Willard-Williford <img align="right" src="https://newsletter.naadvocacy.org/v3files/shard1/491/13/54c511da861dc2d7121f65.png" style="margin: 2px;" width="100" height="135" hspace="2" vspace="2" alt="Joy Willard-Williford">Joy Willard-Williford shares results of fundraising effort in memory of her late husband, Mark Williford, an XK patient. When my late husband, Mark Williford, died in October of 2025, the decision was made to request that, in lieu of flowers, donations be made to Neuroacanthocytosis Advocacy USA, Inc. To sweeten the pot, an anonymous donor stepped forward and promised to match all donations received before the end of the calendar year. Information about the fundraiser was posted on my social media, in the obituary, and a QR code was inserted in the funeral program, making it easier for donations to be made quickly and easily.<img align="right" src="https://newsletter.naadvocacy.org/v3files/shard1/491/90/0040ad26df88c27ecc9dfe.jpg" style="margin: 0px;" width="300" height="480" hspace="0" vspace="0" alt="">   Drum roll please...We are pleased to report that $28,591 was donated before 12/31. That amount will be matched. Since 12/31, another $16,265 was generously given, bringing the grand total to $73,447 given in memory of Mark. He would be so pleased.   The family of Mark and the board of Neuroacanthocytosis Advocacy USA, Inc. are deeply grateful to the many friends, family, and acquaintances who made this achievement possible.   Photo was taken in November 2024. This was Mark's final travel out of the state of Florida. Photo taken at the Pennsylvania gravesite of his 5th great-grandfather, a patriot in the American Revolutionary War. Mark Williford New research from Puerto Rico http://newsletter.naadvocacy.org/167di4kytfe?lang=en?rss=true New research from Puerto Rico identifies three recurring genetic variants (‘founder mutations’) in VPS13A disease, helping explain its higher‑than‑expected prevalence and supporting earlier diagnosis for families. 22 Feb 2026 12:00:00 GMT 92471e696ca43e76fab86829faef04f7 More News New research from Puerto Rico identifies three recurring genetic variants Ruth Walker & Despina Dinca <img align="right" src="https://newsletter.naadvocacy.org/v3files/shard1/491/01/a2e4d46af7e188492b045c.jpg" style="margin: 2px;" width="100" height="100" hspace="2" vspace="2" alt="Cristal Alicea Malavé"> New research from Puerto Rico identifies three recurring genetic variants (‘founder mutations’) in VPS13A disease, helping explain its higher‑than‑expected prevalence and supporting earlier diagnosis for families.  Cristal Alicea‑Malavé and colleagues (led by Dr. Ruth Walker) studied the genetics of ‘VPS13A disease (chorea‑acanthocytosis) in Puerto Rico’, an ultra‑rare neurological condition caused by changes in the VPS13A gene.   This work was accepted as a Late-Breaking Abstract, and was presented by Cristal at the 6th Pan American Parkinson's Disease and Movement Disorders Congress, which took place between 13-15 February 2026 in Houston, Texas, USA.   Although VPS13A disease is found worldwide, the team noticed that more people than expected were being diagnosed in Puerto Rico, and in people of Puerto Rican ancestry in the mainland US. Their study confirmed this: they identified 17 patients from 14 families, which is unusually high for such a rare condition. A number of other patients have been diagnosed over the years using the chorein Western blot (currently performed in Germany by Dr. Kevin Peikert's Rostock team): Increased accessibility of genetic testing has led to this new work.   A key finding is that three specific genetic variants keep appearing in Puerto Rican patients.   The abstract states: “Three recurring variants were identified […] At least one of the 3 alleles was present in each of the 12 patients.”   These recurring variants are likely founder mutations (genetic changes that appeared many generations ago and were passed down through families). The authors note: “The 3 recurrent variants can be considered as ‘founder mutations’ and have likely been present in the population for many years.”   This helps explain why VPS13A disease may be several times more common in Puerto Rico than in other parts of the world.   This work is important because it can lead to: <ul style="margin-top: 0cm; margin-bottom: 0cm;" type="disc"> <li style="margin-bottom: 0cm; margin-top: 0cm; margin-right: 0cm; line-height: 115%; font-size: 13px; font-family: Tahoma, Arial, Helvetica, sans-serif;">Earlier diagnosis</li> <li style="margin-bottom: 0cm; margin-top: 0cm; margin-right: 0cm; line-height: 115%; font-size: 13px; font-family: Tahoma, Arial, Helvetica, sans-serif;">Better genetic counselling for families</li> <li style="margin-bottom: 0cm; margin-top: 0cm; margin-right: 0cm; line-height: 115%; font-size: 13px; font-family: Tahoma, Arial, Helvetica, sans-serif;">More awareness among clinicians (e.g. for patients presenting with seizures or tics)</li> <li style="margin-bottom: 0cm; margin-top: 0cm; margin-right: 0cm; line-height: 115%; font-size: 13px; font-family: Tahoma, Arial, Helvetica, sans-serif;">Improved understanding of how the disease spreads in specific populations.</li> </ul> Cristal Alicea Malavé (left) & Ruth Walker (right) https://newsletter.naadvocacy.org/v3files/shard1/491/f4/aa7abb47d2f36cdf45844b.jpg Partners in Progress: Our Monthly Giving Program http://newsletter.naadvocacy.org/ao7wqrsahb9?lang=en?rss=true We’re excited to launch our new monthly giving program, a way for supporters to help us build a sustainable future for the advocacies. 22 Feb 2026 12:00:00 GMT f5ba40870d6c9058934ef8f51f7f36bd More News Introducing Our Monthly Giving Program Despina Dinca <img align="right" src="https://newsletter.naadvocacy.org/v3files/shard1/491/c6/e7d74cb4752ed14b532166.jpg" style="margin: 2px;" width="100" height="98" hspace="2" vspace="2" alt="New Partners In Progress monthly giving program"> We’re excited to launch our new monthly giving program, a way for supporters to help us build a sustainable future for the advocacies.  You can now become a: 💙 Hope Partner * £10/month 🔬 Research Champion * £25/month.    Join our new monthly giving program, Partners in Progress:  <a href="http://newsletter.naadvocacy.org/1qtuer33evq/external" rel="noreferrer noopener">https://www.goodhub.com/go/partners-in-progress. </a>   The Hope Partner's contributions will help us maintain the connections to keep our community informed and supported.    The Research Champion’s contributions ensure that we can continue to fund new & relevant future research.    You will receive regular updates and our quarterly newsletter, NA News, featuring research developments, patient stories, and community news that keep you connected to the impact of your gift.    Whether you're connected to our community through personal experience or simply believe in our mission, your regular support helps us be there for everyone who needs us.    Important note for US donors: If you're based in the United States, we encourage you to donate through <a href="http://newsletter.naadvocacy.org/1gfiyzdg2m7/external" target="_blank" rel="noreferrer noopener">NA Advocacy USA’s website</a>, to take advantage of tax-deductible benefits. NA Advocacy USA is a registered 501(c)(3) nonprofit, meaning your contributions are tax-deductible under US law.   UK and international donors outside the US can support us directly through <a href="http://newsletter.naadvocacy.org/1qtuer33evq/external">https://www.goodhub.com/go/partners-in-progress</a>. UK donors can also opt to Gift Aid the donation, which brings the charity an extra 25% at no cost for the donor.   Both organisations share the same mission and work closely together to support our global community. Together, we're searching for clues to a cure, and every gift brings us closer. Join us in this journey and become part of a community that's making real progress, one month at a time.    With approximately 3,000 cases worldwide, our community is small but mighty, and every contribution makes a tangible difference.    <a href="http://newsletter.naadvocacy.org/1qtuer33evq/external" target="_blank" rel="noreferrer noopener"><img align="center" src="https://newsletter.naadvocacy.org/v3files/shard1/491/4c/39069ff0beac7a5425d051.jpg" style="margin: 2px;" width="200" height="195" hspace="2" vspace="2" alt="Partners in Progress new monthly program - Become a Hope Partner from £10 per month"></a> <a href="http://newsletter.naadvocacy.org/1qtuer33evq/external" target="_blank" rel="noreferrer noopener"><img align="center" src="https://newsletter.naadvocacy.org/v3files/shard1/491/48/34468246bd301d8ec719c0.jpg" style="margin: 2px;" width="200" height="195" hspace="2" vspace="2" alt="Partners in Progress new monthly program - Become a Research Champion from £25 per month"></a> Cover of "Cataclysmic Limericks", by Alex Irvine New Publication: 12th Symposium Proceedings http://newsletter.naadvocacy.org/109ice88ayt?lang=en?rss=true We're delighted to announce that the proceedings from our 12th International Symposium in Lausanne have been published in Tremor and Other Hyperkinetic Movements Journal [ http://newsletter.naadvocacy.org/kvcrd063lgk/external ]. 22 Feb 2026 12:00:00 GMT 5a8ebc6249d8db8055679f021353b206 More News 12th Symposium Proceedings Now Available Despina Dinca <img align="right" src="https://newsletter.naadvocacy.org/v3files/shard1/491/9a/27060ba15f244190197c55.png" style="margin: 2px;" width="100" height="100" hspace="2" vspace="2" alt="Cover of Tremor and Other Hyperkinetic Movements Journal"> We're delighted to announce that the proceedings from our 12th International Symposium in Lausanne have been published in <a href="http://newsletter.naadvocacy.org/kvcrd063lgk/external" target="_blank" rel="noreferrer noopener">Tremor and Other Hyperkinetic Movements Journal</a>.      This comprehensive report captures the groundbreaking research and patient-focused discussions from September 2025, making the knowledge shared at the symposium accessible to the wider scientific and medical community.   The publication documents three days of intensive collaboration between over 50 scientists, clinicians, and 15 patients and family members. It covers everything from keynote lectures by Professors Adrian Danek and Pietro de Camilli on lipid transport proteins, to cutting-edge research presentations on VPS13A, XK, Cohen syndrome, and other VPS13-related disorders.   The proceedings also highlight our patient-oriented sessions on occupational therapy, mental health, speech and communication, plus José-Miguel Figueiredo's powerful theatre performance "If I Reach Korea I'll Tell You."   It is important to share these through prestigious publications such as Tremor Journal because of the open access, meaning anyone can read it for free. This helps spread awareness among clinicians who may encounter patients with NA syndromes, supports researchers looking to collaborate, and provides families with a comprehensive overview of current scientific understanding.   The proceedings also document the Glenn Irvine Prize award to Dr. Marianna Leonzino and summarize all 20 oral presentations and 10 poster presentations from the symposium.   For anyone who couldn't attend the symposium or wants to revisit the scientific discussions in detail, the full proceedings are available at <a href="http://newsletter.naadvocacy.org/1p75clzinvp/external">https://tremorjournal.org/articles/10.5334/tohm.1124</a>. This publication is another milestone in making the research visible and accessible to the global medical and scientific community.    Fort those who wish to access the lay language version of the report, it's published on our website: <a href="http://newsletter.naadvocacy.org/gvxmugglsxe/external">https://naadvocacy.org/wp-content/uploads/2025/11/REPORT-12th-Symposium-Lausanne-12-14-Sep-2025.pdf</a>.   <img src="https://newsletter.naadvocacy.org/v3files/shard1/491/6f/3d1d29f67c952b17b33781.jpg" style="margin: 2px;" width="586" height="177" hspace="2" vspace="2" alt="All attendees at the 12th International Symposium in Lausanne, Switzerland - 11-13 September 2026"> 24th VPS13 Forum Report http://newsletter.naadvocacy.org/6miqthy2lii?lang=en?rss=true In January, over 40 researchers, clinicians, and community members gathered online for the 24th VPS13 Forum, moderated by Professor Ruth Walker. 22 Feb 2026 12:00:00 GMT 207f5f2ade6a9d72127955f402704a5b More News Exploring Mutations and Lipid Transport Despina Dinca <img align="right" src="https://newsletter.naadvocacy.org/v3files/shard1/491/35/910d969079a34aa76924a0.jpg" style="margin: 2px;" width="100" height="100" hspace="2" vspace="2" alt="REPORT - 24th VPS13 Forum - 26 Jan 2026">In January, over 40 researchers, clinicians, and community members gathered online for the 24th VPS13 Forum, moderated by Professor Ruth Walker.  The session featured two scientific presentations offering fresh insights into how VPS13 proteins and their relatives function at the cellular level.   Professor Shigekazu Nagata from the University of Osaka presented unpublished research on VPS13A mutations, examining how ten different genetic changes affect the protein's behaviour.   Dr. Will Prinz from the University of Texas Southwestern Medical Center shared his lab's work on BLTP2 (Bridge-like lipid-transfer protein), a protein structurally similar to VPS13. While not directly linked to VPS13A disease, BLTP2 research illuminates the shared principles behind these lipid-transport proteins.   You can read the details in the full report available on our website: <a href="http://newsletter.naadvocacy.org/1t3y6jt9suj/external">https://naadvocacy.org/wp-content/uploads/2026/02/REPORT-24th-VPS13-Forum-26-Jan-2026.pdf</a>   The forum also included important advocacy updates from Joy Willard-Williford, who shared that the community raised over $72,000 in memory of her husband Mark to support research. She reminded attendees of two vital ways patients can contribute: brain donation for research and blood donation for XK patients. Joy also encouraged everyone to amplify awareness on Rare Disease Day (28 February) by sharing posts from advocacies’ social media channels. Welcoming Our New Research Advisory Committee Members http://newsletter.naadvocacy.org/5iip0c1xj3y?lang=en?rss=true We are pleased to share an update on the Research Advisory Committee (RAC), which continues to play a vital role in guiding the scientific direction of Advocacy for Neuroacanthocytosis Patients and NA Advocacy USA. 22 Feb 2026 12:00:00 GMT 130823fe5037b712718a14093ddd6148 More News Sharing the updates Despina Dinca <img align="right" src="https://newsletter.naadvocacy.org/v3files/shard1/491/b8/1faf8ad19062c1aef01854.png" style="margin: 2px;" width="100" height="102" hspace="2" vspace="2" alt="NA Advocacy - Research Advisory Committee"> We are pleased to share an update on the Research Advisory Committee (RAC), which continues to play a vital role in guiding the scientific direction of Advocacy for Neuroacanthocytosis Patients and NA Advocacy USA.  We are pleased to share an update on the Research Advisory Committee (RAC), which continues to play a vital role in guiding the scientific direction of Advocacy for Neuroacanthocytosis Patients and NA Advocacy USA.   The RAC provides scientific and strategic guidance to ensure that all research supported by the charities is ethical, high quality, and aligned with the needs and priorities of individuals affected by neuroacanthocytosis (NA) syndromes. This work is essential in a field where progress depends on strong international collaboration and shared expertise.   Before introducing our new members, we want to express our sincere thanks to the RAC members whose terms have recently come to an end. Their expertise, generosity, and long‑standing commitment have shaped our research strategy for many years.   Professor Emeritus Adrian Danek, a central figure in the global NA community, contributing not only his scientific expertise but also his long‑standing personal commitment to our cause. He is a renowned neurologist and he has played a pivotal role in advancing understanding of NA mechanisms. He is also now a trustee of Advocacy for Neuroacanthocytosis Patients, offering invaluable guidance and continuity to our work. His contributions have strengthened our global research relationships, supported thoughtful decision‑making, and ensured that patient experience remained central to every discussion. We are deeply grateful for his service.    Our heartfelt thanks to Professor Mark Walterfang, Consultant Neuropsychiatrist at the Royal Melbourne Hospital, Australia and Professor Volker Haucke, Professor of Molecular Pharmacology at  Leibniz Institut für Molekulare Pharmakologie, Berlin, Germany, who kindly served as Committee members and generously shared their insights and expertise.    We are delighted to welcome Professor Emerita Roberta Fuller and Professor Aaron Neiman who join Professor Ruth Walker. Each Member brings deep scientific and clinical expertise, along with a strong commitment to improving the lives of people affected by NA syndromes.     <hr> <img align="left" src="https://newsletter.naadvocacy.org/v3files/shard1/491/b6/dc730c4c36a6714d7ed52f.jpeg" style="margin: 2px;" width="250" height="250" hspace="2" vspace="2" alt="Professor Roberta Fuller">Roberta Fuller Emerita Professor of Biological Chemistry, University of Michigan, Ann Arbor BS Molecular Biophysics and Biochemistry Yale University 1978 PhD Biochemistry Stanford University 1984 Postdoctoral Biochemistry 1984-1987 University of California, Berkeley Assistant Professor Biochemistry Stanford University 1987-1994 Professor Biological Chemistry University of Michigan, Ann Arbor (Associate 1994-1999, Full 1999-2021; retired active emerita 2021)   My interest in biochemistry had its origins in a book from a knock-off bin, given to me when I was in middle school, on the Molecular Basis of Evolution by Christian Anfinsen. I didn’t understand much of what I read but I gathered that a great deal more was known about living things than I had imagined and that DNA and genes were at the center of it all. As an undergraduate, I was fortunate to receive training in RNA research by Terry Platt at Yale and went on to Stanford for graduate work on the initiation of DNA replication and the role of the DnaA protein with Arthur Kornberg. In my postdoctoral work at Berkeley with Jeremy Thorner, I learned about the benefits of yeast as a model system for understanding the eukaryotic cell. My independent lab at Stanford and later Michigan depended on a wonderful group of graduate students and postdoctoral fellows. Together, we made contributions to understanding the proteolytic processing of precursors of secreted peptides and secretory proteins, and the mechanisms of organization of late compartments of the secretory pathway. It was during this latter work that PhD student Jason Brickner identified the SOI1 gene, which we found to be allelic with VPS13. The homology between the sequence Dr. Brickner obtained for VPS13 later served as a clue in understanding the Chorea Acanthocytosis protein when the ChAC locus was itself cloned.   In the latter part of my academic career, I served as the director of The Cellular and Molecular Biology PhD program at Michigan for a number of years and as a member of the NIH T32 Training program study section. Since retirement, I have spent some time as a volunteer researcher in the lab of Josie Clowney in Molecular, Cell and Developmental Biology at Michigan. Her lab studies the transcriptional regulation of neural development in fruit flies, especially in relation to memory and sexual dimorphism.   <hr>   <img align="left" src="https://newsletter.naadvocacy.org/v3files/shard1/491/22/d73d60ad15b18bd4b8a915.jpg" style="margin: 2px;" width="250" height="250" hspace="2" vspace="2" alt="Professor Aaron Neiman"> Aaron M. Neiman Professor, Department of Biochemistry and Cell Biology Stony Brook University   Aaron received his Ph.D from University of California San Francisco (UCSF), conducting his studies in the laboratory of Ira Herskowitz. After postdoctoral training with Rolf Sternglanz at Stony Brook University, he joined the faculty at Stony Brook in 1999. Aaron is a Fellow of the American Academy of Microbiology and serves as the Cell Biology, Metabolism, and Physiology Section Editor-in-Chief for the Journal of Fungi.   The Neiman lab has spent the last 25 years investigating the process of spore formation in the yeast Saccharomyces cerevisiae as a model system to explore the molecular mechanisms by which cells rearrange their organization during differentiation.   One particular interest in the lab is the VPS13 protein. Spore formation in yeast requires lipid transfer by VPS13 between the endoplasmic reticulum and another intracellular membrane. This simple model allows us to explore the mechanism and regulation of VPS13. Because of the strong conservation of VPS13 proteins, the findings in yeast have direct implications for the function of the human proteins.   I was fortunate to receive support from the NA Advocacy at a critical juncture early in our VPS13 studies and am delighted to have the opportunity to support their efforts.    <hr>   <img align="left" src="https://newsletter.naadvocacy.org/v3files/shard1/491/42/bb2ddd5818ed831a0d5d0e.jpeg" style="margin: 2px;" width="250" height="250" hspace="2" vspace="2" alt="Professor Ruth Walker">Ruth H. Walker MD, PhD   Professor, Department of Neurology at Mount Sinai School of Medicine, New York    Ruth H. Walker obtained her medical degree and PhD from the University of Edinburgh, Scotland.  She completed her neurology residency at New York University School of Medicine and a fellowship in Movement Disorders at Mount Sinai School of Medicine. She is Director of the Movement Disorders Clinic at the James J. Peters Veterans’ Affairs Medical Center in the Bronx, and is Professor in the Department of Neurology at Mount Sinai School of Medicine in New York City.    Dr. Walker’s research focuses on functional neuroanatomy and neurochemistry of the basal ganglia and clinicopathologic correlations of movement disorders.   She has a particular interest in the rare genetic choreas, especially the neuroacanthocytosis syndromes. This started during her movement disorders fellowship when she was involved with a family with an undiagnosed choreic disorder, and led to her becoming a part of the informal coalition of international NA researchers.   She has published and spoken extensively about these diseases, and is very involved with the neuroacanthocytosis patient community.   <hr>   The combined experience of the RAC members spans neurology, genetics, movement disorders, rare disease research, and patient‑centred care. We look forward to working with them as they help guide the next phase of our research efforts.   The Committee exists to ensure that every research effort is meaningful, responsible, and aligned with patient needs. We are excited to continue this important work and the members’ dedication, insight, and international collaboration remain central to our mission of accelerating understanding, improving care, and ultimately searching for clues to a cure.  Alex Irvine unpacking the copies of Cataclysmic Limericks she'll sell in person Patient with XK Makes Donation of Another Kind http://newsletter.naadvocacy.org/1svey5ww8sd?lang=en?rss=true Nathan, who lives with XK disease, recently was called upon to donate his rare blood for the benefit of an infant. 27 Nov 2025 12:00:00 GMT 1e9b405f0e552c75374cc87bf84a6929 More News Patients with XK have opportunity to donate their rare blood to benefit others Joy Willard-Williford <img align="right" src="https://newsletter.naadvocacy.org/v3files/shard1/491/cc/921da8793b9b3fcd784182.jpg" style="margin: 2px;" width="100" height="100" hspace="2" vspace="2" alt="Nathan Akerhielm ">Nathan, who lives with XK disease, recently was called upon to donate his rare blood for the benefit of an infant. Patients with XK disease have the rare McLeod blood phenotype (lacking Kx antigen). This makes their blood type extremely rare, and if they need a blood transfusion, often they can only accept transfusions from other people with XK disease. We have previously published stories in the NA News about the need for XK patients to contact their local blood bank to have their own blood stored, as it is so difficult to find this blood type, especially in an emergency.   Another group of people who sometimes also have this very rare blood type are those with X-linked Chronic Granulomatous Disease (CGD). In recent years, advances in treatment have made it possible for children with CGD, who are vulnerable to many types of infections and often require surgery, to live to adulthood.   Recently, Nathan quickly heeded a request to visit his local blood bank to donate his blood on behalf of an infant, perhaps an infant with CGD.   It remains important for XK patients to have their blood stored for their own personal needs, but it is helpful to make regular donations, if able, so that others may benefit, too. In the United States, patients should contact the blood bank in their region, specifically finding the person(s) responsible for storage of rare blood types.    Thanks for stepping up, Nathan! Nathan Akerhielm https://newsletter.naadvocacy.org/v3files/shard1/491/94/16c23c7c8f1d13dac6b6ab.jpg Patient Fundraiser Knocks it Out of the Stadium! http://newsletter.naadvocacy.org/grh3m790gr5?lang=en?rss=true For the past several years, Drew Smith, a patient with VPS13A disease, has sponsored a fundraiser in conjuction with the annual Super Bowl. Read on to see this year's results. 22 Feb 2026 12:00:00 GMT d97528cf6e62637b98377292912c5ab5 More News Drew Smith announces results of Super Bowl LX fundraiser Drew Smith & Joy Willard-Williford For the past several years, Drew Smith, a patient with VPS13A disease, has sponsored a fundraiser in conjuction with the annual Super Bowl. Read on to see this year's results.<img align="right" src="https://newsletter.naadvocacy.org/v3files/shard1/491/65/51e9d45e3c64025a827af4.jpg" style="margin: 0px;" width="100" height="105" hspace="0" vspace="0" alt=""> Drew reports that his fourth annual Super Bowl fundraiser was another great success! With a goal of raising $2,500 for Neuroacanthocytosis Advocacy USA, he reports exceeding that goal by a whopping $2,000, generating an amazing grand total of $4,500! This far exceeds his prior high of $3,200. <img align="right" src="https://newsletter.naadvocacy.org/v3files/shard1/491/42/f4dd47461d019e68eda004.jpg" style="margin: 0px;" width="300" height="294" hspace="0" vspace="0" alt="">   He does this by "selling" squares to fill a board at $25 per square, with purchasers stating what team they hope will win. The winnings are divided between NA Advocacy USA and the winners. This year, he was able to sell two hundred squares. Many of the winners generously donated their winniings to NA-Advocacy USA, plus others simply used the opporutnity to make a donation. Drew writes: "I sincerely hope this helps to further the research to find better treatments to improve the quality of life of the patients, their families and caregivers that face NA everyday." Since 2023, Drew has raised a remarkable $12,625 towards research through his Super Bowl fundraiser, demonstrating how one person can make a huge difference in the world. Thank you, Drew! Building Our Future: Strategic Plan, Year One Update http://newsletter.naadvocacy.org/28ybqj2hfy3?lang=en?rss=true In September 2025, the Advocacy for Neuroacanthocytosis Patients (NA Advocacy) launched an ambitious three-year Strategic Plan, setting out a clear roadmap to strengthen support for our community, enhance awareness, and fund vital research into VPS13A and XK diseases. 22 Feb 2026 12:00:00 GMT eeab8feb9a410fa1c1a2d48d28079408 More News In September 2025, we launched our ambitious three-year Strategic Plan Despina Dinca <img align="right" src="https://newsletter.naadvocacy.org/v3files/shard1/491/48/f963514fcd88d8ebcdd033.png" style="margin: 2px;" width="100" height="100" hspace="2" vspace="2" alt="NA Advocacy - Three-year strategy cover">In September 2025, the Advocacy for Neuroacanthocytosis Patients (NA Advocacy) launched an  ambitious three-year Strategic Plan, setting out a clear roadmap to strengthen support for our community, enhance awareness, and fund vital research into VPS13A and XK diseases.  As we reach the halfway point of Year One, we wanted to share progress on the key initiatives that are shaping NA Advocacy's future, and be honest about where we've faced challenges.   Major Programs & Milestones The 12th International Symposium in Lausanne was a great success, as you read in previous issue of the newsletter as well as on all our other media.   Our monthly donor programme, Partners in Progress will be launched soon – see the dedicated article in this issue.   The international patient registry project is currently spearheaded by Dr Dave Asinger, member of the Board of NA Advocacy USA and more updates will follow in due course.   Our new website is in the making and we’re working hard to share all the valuable information we accumulated over almost three decades in the most accessible ways to all our audiences.   Educational webinars and events are something we’re looking into developing soon.   On the research front, we have a new Research Advisory Committee who support and guide our research direction with an impressive breadth of experience – read more about it in the dedicated article in this issue.   Financially, we continue to manage costs carefully, prioritising programme delivery while maintaining the governance and systems that keep us compliant and effective.   We are always looking to expand our community and we welcome any volunteer support you may be able to share with us.   Your engagement through NA News, social media, and the VPS13 Forums continues to be vital to us, so please follow and share to your networks, it helps us raise the awareness of our conditions. Collectively, we can improve the lives of people affected by the ultra-rare NA syndromes.   We also continue our collaboration with rare diseases umbrella organisations, networking and making sure our voices are heard where it matters.   Looking Ahead Not everything has gone exactly to plan, some steps had to be taken slower than originally anticipated. But we remain committed to the vision that drives this strategy: a world where NA syndromes are correctly diagnosed, well understood, effectively treated, and ultimately cured.   As we move into the second half of Year One we’ll continue to work hard and we're grateful for your continued support and partnership in this journey!  Seeds of Support: Next Chapter! http://newsletter.naadvocacy.org/fw0jyxh8ik4?lang=en?rss=true In our previous issue we shared all about Sheila’s open garden in August 2025 [ http://newsletter.naadvocacy.org/1t6a0wks5wd/external ]. And we have even more exciting news! 22 Feb 2026 12:00:00 GMT c9b0f59b4dc29b04843dd8ba89c429ac More News Sheila's Garden Raises Funds and Spirits Ginger Irvine & Despina Dinca <img align="right" src="https://newsletter.naadvocacy.org/v3files/shard1/491/ea/d19b769df475b20b5d72ad.png" style="margin: 2px;" width="100" height="100" hspace="2" vspace="2" alt="Sheila Averbuch"> In our previous issue we shared <a href="http://newsletter.naadvocacy.org/1t6a0wks5wd/external">all about Sheila’s open garden in August 2025</a>. And we have even more exciting news!  While Sheila didn't win the BBC Gardeners' World Magazine People's Choice award, she was gracious in celebrating the deserving winner with their beautiful small garden.   The recognition sparked something wonderful! Sheila, as a gardening author, will have an article appearing in the April issue English Garden magazine, and also Gardeners' World Magazine will feature an article about her garden in April!   Both pieces will advertise the open garden days for NA Advocacy on 24-25 April, bringing our cause to thousands of garden enthusiasts across the UK. Do mark your calendar if you happen to be near Edinburgh around Friday/Saturday, 24/25 April 2026, 1pm - 5pm, admission £5.00, and the address is: Mercat Cottage Garden, 1 The Cross, Pencaitland, East Lothian EH34 5DA.   This is exactly the kind of creative advocacy that makes such a difference for small charities like ours. Sheila's determination to continue to make this into an opportunity, and to use her platform to raise awareness of NA syndromes through showcasing her beautiful garden, exemplifies the spirit of our community. You can see photos below from last year's open garden in August.    Note from us: Thank you, Sheila, for your continued dedication, creativity, and generosity. Your support makes a real difference to us and to everyone in the NA community. We hope many of you will visit on 24-25 April, and don't forget <a href="http://newsletter.naadvocacy.org/3x3ddxx4jkr/external">Alex's book</a> will be available to buy!  Sheila Averbuch in her garden https://newsletter.naadvocacy.org/v3files/shard1/491/2d/3515bfe59c264e35a99cfd.png We’re Recruiting New Trustees http://newsletter.naadvocacy.org/3p293od2cw8?lang=en?rss=true Advocacy for Neuroacanthocytosis Patients is opening applications for new trustee roles. 22 Feb 2026 12:00:00 GMT 168b5f81b693620afd8e54ecdbc269c9 More News Could It Be You (or Someone You Know)? Ginger Irvine & Despina Dinca <img align="right" src="https://newsletter.naadvocacy.org/v3files/shard1/491/f6/a79485d29fdb7d6dd4f85b.png" style="margin: 2px;" width="100" height="100" hspace="2" vspace="2" alt=""> Advocacy for Neuroacanthocytosis Patients is opening applications for new trustee roles.   We would love your help spreading the word, or even considering the opportunity yourself.   We are a “small but determined international charity supporting patients, families, and carers affected by neuroacanthocytosis (NA) syndromes”. As our work grows, so does the need for strong, thoughtful governance. That’s why we’re looking for individuals who can bring insight, compassion, and a commitment to impact.   Who We’re Looking For We welcome applicants from all backgrounds, but we are especially keen to hear from people based in the UK. We are looking for the willingness to contribute your time, skills, and perspective. Our trustees play a vital role in steering our charity, ensuring we remain mission‑focused, financially sound, and responsive to the needs of our community.   We currently have openings for:   2 x Trustee for supporting strategy, governance, outreach, and patient-centred decision-making. Full role description: <a href="http://newsletter.naadvocacy.org/1c987ht1qk8/external">https://naadvocacy.org/wp-content/uploads/2026/02/Trustee-Role-description-Nov-2025.pdf </a>   1 x Trustee with specific fundraising knowledge / background, for helping shape our fundraising strategy, donor engagement, and income development. Full role description: <a href="http://newsletter.naadvocacy.org/1hbxcfln3lp/external">https://naadvocacy.org/wp-content/uploads/2026/02/Trustee-Fundraising-Role-description-Nov-2025.pdf</a>   Both roles are flexible, virtual, and designed to fit around other commitments.   Why Join Us? Becoming a trustee is a meaningful way to make a difference. You’ll help guide a charity working in an ultra‑rare, deeply underserved area, collaborate with a passionate international team, and contribute to a future where NA syndromes are better understood and better supported.   How You Can Help   Consider expressing interest if the role resonates with you.   Share this opportunity with colleagues, friends, or networks who may be a good fit.   If you’d like to express interest or learn more, please contact:  Despina Dinca, Charity Manager — <a href="mailto:despinadinca@naadvocacy.org">despinadinca@naadvocacy.org</a>.