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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
- Enhance collaborations between scientists and clinicians researching VPS13-associated diseases.
- Offer a forum for clinicians to discuss evidence-based best practices.
- Involve patients, families, and advocacy organizations to guide research priorities and address daily challenges.
- 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
Registration and coffee
Conference Opening
Chair: Muhammad Ansar
Keynote Lecture
Chair: Ruth Walker
The Emerging Landscape of VPS13-Related Syndromes
Adrian Danek
Coffee Break
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
Session 2: Lipid transport proteins
Chair: Fabrizo Vacca
Partner proteins of yeast Vps13
Speaker: Aaron M. Neiman
Lunch Break
Session 2: Lipid transport proteins
Chair: Fabrizo Vacca
The Alkuraya-Kučinskas Syndrome
Speaker: Alexandre Reymond
To be confirmed
To be confirmed
Group Photo and Coffee Break
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
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
Group Photo and Coffee Break
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
Parallel patient session 2: Neuroacanthocytosis syndromes (XK disease - disease evolution
Chairs: Despina Dinca
Yet to be planned
Yet to be planned
Group Photo and Coffee Break
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
Poster session
Selected topics on VPS13-related studies, including cell and animal models.
Networking Dinner at the Aquatis Hotel Restaurant
(Rte de Berne 148, 1010 Lausanne)
Saturday, September 13, 2025
Keynote Lecture
Chair: Adrian Danek
Title: VPS13 family proteins in physiology and disease
Speaker: Pietro de Camilli
Coffee Break
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
Lunch Break
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
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
Parallel patient session 4: Neuroacanthocytosis syndromes (XK disease - disease evolution
Chairs: NA Advocacy – yet to be planned
Coffee Break
Session 5: Short poster presentations
Chair: Fabrizio Vacca
Sunday, September 14, 2025
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
Coffee Break
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
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
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
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