Programme

International Symposium on the Molecular and Clinical Aspects of Cockayne Syndrome and Related Diseases

Ljubljana, Slovenia | 7–10 May 2026

Organized under the ERDERA Networking Support Scheme

May 8 (Friday) Opening & Keynote Session

Theme: Setting the Stage: Connecting Science, Clinics, and Families

15h00 - 16h00 - Registration & Welcome Coffee – Participant arrival, networking

16h00 - 16h10 - Welcome by patient representatives - Gregor Bezenšek, founder of Viljem Julijan Association and Borut Lavrič, father of Karolina.

16h10 - 16h30 - Nejc Jelen, PhD: The hopeful mission to develop gene therapy for Cockayne Syndrome Type B

16h30 - 16h40 - Clévio Nóbrega, PhD - Chair meeting

16h40 - 17h40 - Keynote Lecture I – Jan H.J. Hoeijmakers, PhD: “DNA Damage, Ageing and the Link to Neurodegeneration: Lessons from DNA Repair Disorders”

17h40 - 18h00 - Coffee break

Session 1: Lessons from disease models

18h00 - 18h30 - Clévio Nóbrega, PhD: "Development of a gene therapy for CSB: the challenges and successes from 4 years to now"

18h30 - 18h40 - First Day Closing Ceremony

May 9 (Saturday)

Session 2: From DNA Repair to Ageing

10h30 - 11h00 - Donata Orioli, PhD: "Impact of missense mutations on CSA protein stability"

11h00 - 11h30 - Arjan F. Theil, PhD: “Identification of a novel NER deficiency syndrome caused by mutation in gene X”

11h30 - 12h00 - Jurgen Marteijn, PhD: “Unresolved RNA polymerase II stalling in Cockayne syndrome”

12h00 - 12h30 - Coffee Break / Networking

12h30 - 13h30 - Keynote Lecture II – Tomoo Ogi, MD, PhD: “Newly identified CSB patients in Japan: genotype-phenotype relationship and a new function of CSB”

13h30 - 15h00 - Lunch Break

Session 3: Cockayne Syndrome clinical insights

15h00 - 15h30 - Luca Proietti De Santis, PhD: “Towards Gene Therapy in Cockayne Syndrome: Timing, Genetic Context and Functional Readouts”

Session 4: What lies beyond DNA repair?

15h30 - 16h00 - Miria Ricchetti, PhD: “Neural organoids model the severity and progression of neurological defects in Cockayne syndrome”

16h00 - 16h30 - Sebastian Iben, PhD: “What goes constitutively wrong in Cockayne syndrome cells?”

16h30 - 17h00 - Coffee Break / Networking Time

Session 5: Emerging Gene Therapies for CS

17h00 - 17h30 - Christina Pacak, PhD: “From base pairs to bedside: Building a Translational Gene therapyprogram for Cockayne Syndrome B.”

18h00 - Dinner & After Dinner - Evening Gathering

May 10 (Sunday) Clinical Medicine & Patient Advocacy Day

Session 6: Clinical Care and Diagnosis Across Europe

10h00 - 12h00 - Panel Discussion: From Bench to Bedside – Families, clinicians, and researchers discussing next steps

12h00 - 12h30 - Closing Remarks – Summary of conclusions for families