Neuroacanthocytosis Advocacy USA, Inc.

10/23/2025

Sharing the news that my courageous, kind, and giving husband, Mark, died peacefully on October 13th. Mark was officially diagnosed with XK disease in 2009. You can read more about him in the obituary written by our youngest daughter, with input from her sister and me.

Mark David Williford Born on October 20, 1953 in Orlando, Florida Passed on October 13, 2025 in Melbourne, Florida Mark David Williford died peacefully on October 13th in Melbourne, Florida just shy of his 72nd birthday. Born October 20, 1953 in Orlando, the son of Kay Reece and Pauline Knarr Willif...

09/24/2025

Always appreciative of Despina, charity manager for The Advocacy for Neuroacanthocytosis Patients, for her behind-the-scenes work making the forum information available and understandable to us lay folk. Here is her summary report of the 22nd VPS13 Forum Report. Her post below includes dates for upcoming VPS13 forums.

🧬 Just published 👉 The 22nd VPS13 Forum Report

At the end of July, over 60 participants joined us to hear the latest on VPS13 and XK proteins - from cutting-edge structural biology to new discoveries about brain repair, cell stress, and mitochondrial health.

We also shared updates on our new three-year Strategic Plan which will be published soon on our website.

It took us a while to publish this report because we’ve been very busy bees with the 12th Symposium which took place in Lausanne in mid-September. So more reporting coming your way soon!

In the meantime, next Forum dates for your diary:
• 24 November 2025
• 26 January 2026
• 27 April 2026
• 27 July 2026
• 26 October 2026.

The VPS13 Forum brings patients, families, clinicians, and researchers closer, all in the spirit of searching for clues to a cure.

📖 Read the full report here:https://naadvocacy.org/wp-content/uploads/2025/09/REPORT-22nd-VPS13-Forum-28Jul2025.pdf

📖 Browse the archive: https://naadvocacy.org/research-forum

09/18/2025

Despina says it well.

09/14/2025

Will post more later when I am less tired, but did want to share this wonderful pic of all the patients and their families and caregivers (plus Dr. Ruth Walker) who attended the 12th International Meeting in VPS13-related Syndromes in Lausanne, Switzerland. What a wonderful and inspiring group! We deepened existing relationships and established new ones. So important to know you are not alone in this ultra-rare disease world.

09/12/2025

Day 1 of the 12th International Symposium on Neuroacanthocytosis, Cohen Syndrome and other VPS13-related Disorders is in the books. Meeting planners here in Lausanne have worked hard on their preparations and it shows. Splendid job!

Patients and their families are here from France, Portugal, the UK, and from all over the US - California, Minnesota, Ohio, and Florida. All but two of our board members made it. It’s fun getting to know others and sharing stories.

It’s encouraging to see all the researchers and clinicians here, and to witness their passion for, and commitment to, the work.

Grateful for this time together. Grateful for the research being undertaken.

09/10/2025

Check out this great piece on Doug and Erin Berndsen in Rare Revolution. Doug has XK disease and the piece shares their difficult - and all too common - journey towards diagnosis and treatment challenges.

A rare neurological condition would challenge everything Doug knew about his shared future with wife Erin. Their collective story highlights the profound human impact of a delayed diagnosis, and the extraordinary strength required to navigate an uncertain and progressive disease arc. Read here:
https://bit.ly/Doug-At-What-Cost

Advocacy for Neuroacanthocytosis Patients An ultra rare disease

09/01/2025

Enjoy this featured article about the work of Glenn and Ginger Irvine and The Advocacy for Neuroacanthocytosis Patients, our “sister” organization.

We’re honoured that RARE Revolution Magazine featured us in their latest edition, Rare neuromuscular. It’s a recognition of Glenn and Ginger Irvine, founders of our charity, as we mark 25 years of Advocacy for Neuroacanthocytosis Patients. The article reflects on their extraordinary contribution and legacy, the creation of the Glenn Irvine Prize, the patient stories that remain at the heart of everything we do, and our new strategic plan looking to what we want to achieve by 2028 and beyond.

There is also a second piece in this issue from Erin and Douglas Berndsen, and their story is of great help to raise awareness of VPS13A and XK diseases, continuing the important work of bringing these ultra-rare conditions to wider attention. Neuroacanthocytosis Advocacy USA, Inc.

A huge thank you to Rare Revolution for recognising our journey and amplifying patient voices!

📰 Read the articles here: https://bit.ly/From-The-Ground-Up
📰 Read the full issue here: https://bit.ly/RARE-Neuromuscular

08/27/2025

Congratulations to Dr. Marianna Leonzino and deep appreciation for her dedication to the study of VPS13-related disorders.

🌟 Announcing the 2025 Glenn Irvine Prize Winner! 🌟

We are delighted to award this year’s Glenn Irvine Prize to Dr Marianna Leonzino, in recognition of her outstanding contributions to research on the VPS13 protein family.

Her work has spanned from groundbreaking discoveries during her postdoctoral training in Pietro De Camilli’s lab at Yale, to leading her own research group at the Institute of Neuroscience of the CNR at Humanitas.

In her words:
“My interest in the VPS13 protein family began during my postdoctoral training [...] at Yale University. I contributed to seminal discoveries showing that VPS13 proteins act as lipid transfer proteins and localize at specific points where cell membranes meet. I also helped identify their binding partners and clarified how different human VPS13 family members (especially A, C, and D) connect to distinct cellular functions.

In recent years, I have been leading my own research group focusing on VPS13D. Because completely removing this protein is lethal for cells, we developed innovative models that allow us to study its function in living cells and in human neurons. These models are now giving us highly relevant insights into how VPS13D works, why its loss causes disease, and how this knowledge may guide future therapies.”

The Glenn Irvine Prize honours the memory of our charity’s co-founder and celebrates the work of young scientists whose research advances understanding of VPS13 and XK diseases. The idea and a large part of the prize fund was a generous contribution from Carl and Betty Pforzheimer. Thanks to them, the Prize can continue to be awarded for many years to come, and for this we are very grateful.

👏 Please join us in congratulating Dr Leonzino on this well-deserved recognition! The Prize will be formally awarded at the 12th International Meeting for Neuroacanthocytosis Syndromes, Cohen Syndrome and VPS13-related disorders on 14 September 2025, where Dr Leonzino will also present her research work.

https://naadvocacy.org/the-glenn-irvine-prize/

07/31/2025

Hot off the press! Check out our latest NA News!

Thank you for reading this 48th edition of NA News. Inside this issue you will find information about the upcoming 12th International Meeting of Neuroacanthocytosis, Cohen Syndrome, and other VPS13-related diseases, the latest news on research from Italy and New York, and a story on a recent Q&A fo...

07/24/2025

✨ You’re invited!
Join us in Lausanne, Switzerland, 12–14 September 2025 for the
12th International Meeting on Neuroacanthocytosis Syndromes, Cohen Syndrome, and VPS13-related Disorders.

This global event brings together researchers, clinicians, patients, families and carers to:
✔️ Share the latest scientific research
✔️ Learn more about living with VPS13A and XK diseases
✔️ Connect with others in the NA community

📍 Venue: Jules-Gonin Eye Hospital, Lausanne

🔗 Full programme & registration: https://events.ophtalmique.ch/evenement/vps13-meeting/

🔗 More details (English, Deutsch, Español) updated regularly: https://naadvocacy.org/12th-international-meeting-for-neuroacanthocytosis-syndromes-cohen-syndrome-and-vps13-related-disorders/

Everyone is welcome, whether you’re a patient, family member, researcher or supporter. Let’s move research and care forward, together.

06/21/2025

Thank you for reading this 42nd edition of NA News. We are pleased to announce the winner of the 2023 Glenn Irvine Prize, Dr. Kevin Peikert (shown above), and to provide details on the upcoming 11th International Meeting on Neuroacanthocytosis Syndromes to be held in Homburg/Saar, Germany in mid-Sep...

06/09/2025

Hopeful news!!!

🧬 New research uncovers how VPS13A disease (also known as chorea-acanthocytosis), a rare genetic disorder, may cause early muscle aging

Scientists led by Professor Lucia De Franceschi (photo - far right) at the University of Verona found that without the gene, muscles struggle to clean up waste proteins, lose energy, and show signs of stress and inflammation - much like in aging. This could explain why some patients experience muscle weakness early on. Promisingly, a known drug (rapamycin) helped restore cell health in mice. This discovery is a potential stepping stone on the path for treatment and better quality of life for people with VPS13A disease.

This study was recently published in Acta Neuropathologica Communications and was supported in part by the Advocacy for Neuroacanthocytosis Patients and Neuroacanthocytosis Advocacy USA, Inc., which provided funding for the maintenance of the mouse model used in the research.

Full paper here: https://actaneurocomms.biomedcentral.com/articles/10.1186/s40478-025-01997-y

PS - Veronica Riccardi (photo - third from the right) is the first author of the paper.