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Meeting on VPS13

PI, Group Leaders, Senior scientists

Meeting on VPS13

PhD student, Postdoc

Meeting on VPS13

Patients and families

About the Conference

This 12th edition of the International Meeting on Neuroacanthocytosis, Cohen Syndrome and other VPS13-Related disorders (this year organized by the Hôpital Ophtalmique Jules-Gonin and Fondation Asile des Aveugles and the Cohen Syndrome Research Foundation) aims to unite clinicians, researchers, patients, families, and advocacy organizations to foster collaboration, enhance disease management, and explore innovative treatment strategies for conditions associated with pathogenic variants in the VPS13 gene family. These include Neuroacanthocytosis syndromes (XK disease, VPS13A disease), Cohen syndrome, VPS13C-related Parkinsonism, and VPS13D-related ataxia.

The event’s primary goal is to provide a platform for knowledge exchange, focusing on the latest advancements in understanding and managing VPS13-associated diseases. Patient and caregiver involvement will be central, ensuring their perspectives shape clinical care and future research directions. Through this collaborative approach, we aim to advance multidisciplinary solutions and accelerate the development of cutting-edge therapies.

Key Objectives

  1. Enhance collaborations between scientists and clinicians researching VPS13-associated diseases.
  2. Offer a forum for clinicians to discuss evidence-based best practices.
  3. Involve patients, families, and advocacy organizations to guide research priorities and address daily challenges.
  4. Explore novel treatment approaches leveraging modern biotechnologies and therapies.

Programme

Organizing Committee: Muhammad Ansar (Muhammad.Ansar@fa2.ch), Fabrizio Vacca (Fabrizio.Vacca@fa2.ch), Sophie Bothner-Barbier (coursetcongres@fa2.ch),  Binnaz Yalcin (binnaz.yalcin@inserm.fr)

Scientific Committee: Kevin Peikert, Adrian Danek, Ruth Walker, Lars Kaestner, Binnaz Yalcin, Fabrizio Vacca, Muhammad Ansar

Friday, September 12, 2025

8:30 - 9:00

Registration and coffee

9:00 - 9:30

Conference Opening

Chair: Muhammad Ansar

9:30 - 10:30

Keynote Lecture

Chair: Ruth Walker

The Emerging Landscape of VPS13-Related Syndromes

Adrian Danek

10:30 - 11:00

Coffee Break

11:00 - 12:30

Session 1: Clinical Perspectives of VPS13A/XK/Cohen syndrome

Chair: Lucia De Franceschi

Clinical Management in VPS13A/XK

Speaker: Ruth Walker

Building Bridges to the Future: Insights from Two Decades of Comprehensive Medical Care for Over 100 Cohen Syndrome Patients

Speaker: Heng Wang

Update on VPS13A Disease

Speaker: Kevin Peikert

12:30 - 13:00

Session 2: Lipid transport proteins

Chair: Fabrizo Vacca

Partner proteins of yeast Vps13

Speaker: Aaron M. Neiman

13:00 - 14:30

Lunch Break

14:30 - 15:30

Session 2: Lipid transport proteins

Chair: Fabrizo Vacca

The Alkuraya-Kučinskas Syndrome

Speaker: Alexandre Reymond

A Journey on the Interorganelle Lipid Transportation Network

Speaker: Benoit Kornmann

15:30 - 16:00

Group Photo and Coffee Break

16:00 - 17:00

Session 2: Lipid transport proteins

Chairs: Fabrizo Vacca

Architecture of a native bridge-like lipid transport protein complex

Speaker: Sarah A. Clark

Revealing the regulation of Vps13 through the analysis of physical interactions

Speaker: Joanna Kaminska

14:30 - 15:30

Parallel patient session 1: learning from the evolution of Cohen Syndrome

Chairs: Ashley Waterman

Evolution and management of retinal dystrophy and other eye-related phenotypes in Cohen syndrome

Speaker: Nathalie Voide

Open discussion on overall disease management – parent’s perspective

15:30 - 16:00

Group Photo and Coffee Break

16:00 - 17:00

Parallel patient session 1: Learning from the evolution of Cohen Syndrome

Chairs: Ashley Waterman

Discussion on orthopedic complications

Speaker: Pierre-Yves Zambelli

Open discussion on overall disease management – parent’s perspective

14:30 - 16:00

Parallel patient session 2: Neuroacanthocytosis syndromes (XK disease - disease evolution

Chairs: Despina Dinca

Yet to be planned

Yet to be planned

15:30 - 16:00

Group Photo and Coffee Break

16:00 - 17:00

Parallel patient session 2: Neuroacanthocytosis syndromes (XK disease - disease evolution

Chairs: Despina Dinca – yet to be planned

yet to be planned

yet to be planned

17:00 - 18:00

Poster session

Selected topics on VPS13-related studies, including cell and animal models.

19:00

Networking Dinner at the Aquatis Hotel Restaurant

(Rte de Berne 148, 1010 Lausanne)

Saturday, September 13, 2025

9:30 - 10:30

Keynote Lecture

Chair: Adrian Danek

Title: VPS13 family proteins in physiology and disease

Speaker: Pietro de Camilli

10:30 - 11:00

Coffee Break

11:00 - 12:30

Session 3: Model organisms

Chair: Muhammad Ansar

Human Anterior Neural Organoids as a Promising Model for Cohen Syndrome

Speaker: Woong Sun

Characterization of Mouse Models of Cohen Syndrome to Better Understand Disease Pathogenesis

Speaker: Binnaz Yalcin

Muscle dysfunction in VPS13A disease: progress from animal model to human muscle biopsies

Speaker: Lucia De Franceschi

12:30 - 14:00

Lunch Break

14:00 - 15:30

Session 4: Advances in VPS13A Research

Chair: Ruth Walker

An Update on ‘Red Blood Cells as a Diagnostic Biomarker for Neuroacanthocytosis Syndromes

Speaker: Lars Kaestner

VPS13 expression in red blood cells

Speaker: Lesley Bruce

Phenotypes in iPSC-derived neurons from patients with VPS13A disease

Speaker: Dajana Grossmann

14:30 - 16:00

Parallel patient session 3: Learning from the evolution of Cohen Syndrome

Chairs: Ashley Waterman

Understanding the genetics of CS and updates on therapeutic development

Speaker: Muhammad Ansar

Disease management – clinical perspective

Speaker: Heng Wang

Discussion with parents and caregivers on the progression and evolution of Cohen syndrome

14:30 - 16:00

Parallel patient session 4: Neuroacanthocytosis syndromes (XK disease - disease evolution

Chairs: NA Advocacy – yet to be planned

15:30 - 16:00

Coffee Break

16:00 - 18:00

Session 5: Short poster presentations

Chair: Fabrizio Vacca

Sunday, September 14, 2025

08:30 - 10:30

Session 6: Genes to therapy for Cohen syndrome

Chair: Binnaz Yalcin

Understanding the genetics of Cohen Syndrome and potential therapeutic options

Speaker: Muhammad Ansar

Drug discovery for the treatment of Cohen Syndrome

Speaker: Fabrizio Vacca

Consequences of VPS13B deficiency beyond the Golgi

Speaker: Jens Lüders

10:30 - 11:00

Coffee Break

11:00 - 12:30

Session 7: Clinical New directions

Chair: Lars Kaestner

The Clinical Perspective of Neuroacanthocytosis

Speaker: Hans Jung

Exploring the Role of VPS13B in Cohen Syndrome

Speaker: Wenke Seifert

The Glenn Irvine Prize talk

Speaker: yet to be planned

12:30 - 15:00

Networking Lunch and discussion on potential collaborations

End of Conference

Intervenants

Ruth Walker

Departments of Neurology, James J. Peters Veterans Affairs Medical Center and Mount Sinai School of Medicine, New York, NY, USA

Kevin Peikert

Translational Neurodegeneration Section "Albrecht Kossel", Department of Neurology, Center for Transdisciplinary Neurosciences Rostock (CTNR), United Neuroscience Campus Lund-Rostock (UNC), University of Rostock, Rostock, Germany

Adrian Danek

Department of Neurology, LMU University Hospital, LMU Munich, Munich, Germany

Lucia de Franceschi

Department of Medicine, University of Verona AOUI Verona, 37134 Verona, Italy

Aaron M. Neiman

Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY, United States

Hans Jung

Department of Neurology, University Hospital Zurich, Zurich, Switzerland

Lars Kaestner

Theoretical Medicine and Biosciences, Saarland University, Campus University Hospital, 66421 Homburg/Saar, Germany

Dajana Grossmann

Translational Neurodegeneration Section “Albrecht Kossel”, University of Rostock, Germany

Lesley Brucet

1) Bristol Institute for Transfusion Sciences, NHS Blood and Transplant and School of Biochemistry, University of Bristol, Bristol, UK

Jens Lüders

Mechanisms of Disease Programme, Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain

Woong Sun

Department of Anatomy, Korea University College of Medicine, Seoul, Republic of Korea

Wenke Seifert

Institute of Cell Biology and Neurobiology, Charité - Universitätsmedizin Berlin

Muhammad Ansar

Hôpital ophtalmique Jules-Gonin, Fondation Asile des aveugles, University of Lausanne, Switzerland

Fabrizio Vacca

Hôpital ophtalmique Jules-Gonin, Fondation Asile des aveugles, University of Lausanne, Switzerland

Binnaz Yalcin

INSERM U1231 Center for Translational and Molecular Medicine, Dijon, France

Heng Wang

Medical Director, DDC Clinic for Special Needs Children, Middlefield, OH, USA – Clinical data on Cohen Syndrome

Pierre-Yves Zambelli

Pediatric Orthopedic Department, Children's Hospital, University Hospital Lausanne, Lausanne, Switzerland

Nathalie Voide

Pediatric strabology and ophthalmology department, Hôpital ophtalmique Jules-Gonin, Switzerland

Pietro de Camilli

Department of Cell Biology, department of Neuroscience, Program in Cellular Neuroscience, Neurodegeneration, and Repair and Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT, USA

Alexandre Reymond

University of Lausanne, Lausanne, Suisse

Joanna Kaminska

Institute of Biochemistry and Biophysics, Polish Academy of Sciences, 02-106 Warsaw, Poland

Benoit Kornmann

Department of Biochemistry, University of Oxford, UK

Sarah Clark

Department of Biochemistry and Biophysics, Oregon State University, Corvallis, OR, USA

Lieu

Auditorium, Jules-Gonin Eye Hospital, Fondation Asile des Aveugles – Scientific presentations
Rooms Louis Braille 1 and 2 – Patients and relatives – Neuroacanthocytosis
Room Elisabeth de Cejat – Patients and relatives – Cohen Syndrome

For arrival information, please visit our website: Accès – Hôpital ophtalmique Jules-Gonin

Contact

Jules-Gonin Eye Hospital
Avenue de France 15
Case postale 1
1001 Lausanne