Please note that all times are given as Irish Local Time – Please check your time zone for the correct times

11:45 am – 12:00 pm – Welcome Address

by Dr Patrick Harrison, UCC, Professor Elena Levtchenko, UZ Leuven and Ms Anne Marie O’Dowd, Cystinosis Ireland.

Session One – Chair Dr Patrick Harrison

12:00 pm – 12:25 pm – Keynote Speaker – Dr Rik Gijsbers – Associate Professor, Faculty of Medicine and Head of the Subdivision Viral Vector Technology & Gene Therapy, KU Leuven, Belgium

Title of Presentation: Viral Vectors for Gene Therapy: repurposing viruses to study and cure genetic disorders

12:25 pm – 12:55 pm – Short Research Communications

• Dr Jennifer Hollywood, Department of Molecular Medicine and Pathology, The University of Auckland, New Zealand – mTor inhibition in Cystinotic iPSC’s and a new rat model to study Cystinosis
• Dries David, Department of Pharmaceutical and Pharmacological Sciences, Laboratory for Viral Vector Technology and Gene Therapy, KU Leuven, Belgium – First steps towards a kidney directed gene therapeutic approach for the lysosomal storage disease cystinosis
• Amer Jamalpoor, Faculty of Science, Department of Pharmaceutical Sciences, Division of Pharmacology, Utrecht University, The Netherlands – Cysteamine-bicalutamide combination treatment restores α-ketoglutarate and corrects proximal tubule phenotype in nephropathic cystinosis

12:55 pm – 1:10 pm – Q&A and Discussion

1:10 pm – 1:15 pm – 5 MIN COMFORT BREAK

Session Two – Chair Professor Elena Levtchenko

1:15 pm – 1:40 pm – Keynote Speaker – Dr Manoe Janssen, Assistant Professor, Department of Pharmaceutical Sciences, Utrecht University, The Netherlands

Title of Presentation: Exploring new therapy options for cystinosis.

1:40 pm – 2:10 pm – Short Research Communications

• Dr Shu-Dong Zhang, Northern Ireland Centre for Stratified Medicine, Ulster University, Northern Ireland – Gene expression connectivity mapping approach to drug repurposing for cystinosis
• Fatima Tokhmafshan, McGill University Health Centre, Montreal, Canada – A new nonsense mutant mouse model for cystinosis
• Dr Koenraad Veys, Department of Pediatrics, Pediatric Nephrology, UZ Leuven, Belgium – Impact of early initiation of cysteamine on renal and extra-renal outcomes in cystinosis: a retrospective international multicentric cohort study in cystinosis siblings

2:10 pm – 2:25 pm – Q&A and Discussion

2:25 pm – 2:45 pm – 20 MIN BREAK

Session Three – Chair Dr Patrick Harrison

2:45 pm – 3:10 pm – Keynote Speaker – Professor Michael Taggart – Chair of Reproductive Sciences, Cardiovascular Research Centre, Newcastle University, UK

Title of Presentation: Multimorbidity and cystinosis: what about the cardiovascular system?

3:10 pm – 3:40 pm – Short Research Communications

• Dr Aude Servais, Nephrology and Transplantation, Necker hospital, APHP, Paris, France – RaDiCo-ECYSCO, a European cystinosis cohort
• Dr Brendan Keating (on behalf of the International Genetics & Translational Research in Transplantation Network – iGeneTRAiN), Penn Transplant Institute, University of Pennsylvania, Philadelphia, PA, USA – The logistics of Genome-wide Genotyping and Whole Exome Sequencing of all available Cystinosis Patients Globally: The Why, the How, and the Who
• Annika Ewert, Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Children’s Hospital, Hannover, Germany – Bone and mineral metabolism in children with nephropathic cystinosis compared to other CKD entities

3:40 pm – 3:55 pm – Q&A and Discussion

3:55 pm – 4:00 pm – 5 MIN COMFORT BREAK

Session Four – Chair Professor Elena Levtchenko

4:00 pm – 4:25 pm – Keynote Speaker – Professor Maya Doyle, Associate Professor of Social Work, School of Health Sciences & Clinical Assistant Professor, Frank H. Netter MD School of Medicine, Quinnipiac University, USA – including contributions from members of the Adult Leadership Advisory Board (ALAB) – Ms Cheryl Simeons and Ms Karen Gledhill

Title of Presentation: Advancing Adult Leadership in Cystinosis Advocacy and Support – see poster for this presentation here

4:25 pm – 4:40 pm – Anne Marie O’Dowd, Director of Cystinosis Ireland; Chair Cystinosis Network Europe & Worldwide Cystinosis Community Advisory Board

Title of Presentation: The importance of Public and Patient Involvement throughout the research process and its impact on funding decisions

4:40 pm – 4:55 pm – Q&A and Discussion

4:55 pm – 5:15 pm – 20 MIN BREAK

Session Five – Chair Dr Patrick Harrison

5:15 pm – 5:40 pm – Keynote Speaker – Professor Francesco Emma MD – Head of the Department of Pediatric Subspecialties, Ospedale Pediatrico Bambino Gesù, Rome, Italy

Title of Presentation: Understanding and searching for new therapies in nephropathic cystinosis

5:40 pm – 6:10 pm – Short Research Communications

• Dr Swastika Sur, Department of Surgery, University of California San Francisco, USA – Identification of Specific Vacuolar-ATPases by Gene Expression Profiling in renal cells and testis of Nephropathic Cystinosis
• Meisha Khan, Department of Pediatrics, Division of Genetics, University of California, San Diego, USA – Macrophage tunnelling nanotube-mediated HSPC transplantation therapy for the lysosomal storage disorder cystinosis remains effective in preclinical mouse study following Shpk elimination
• Professor Justine Bacchetta, Centre de Référence des Maladies Rénales Rares, Centre de Référence des Maladies Rares du Calcium et du Phosphore, Hôpital Femme Mère Enfant, Bron, France – Osteoclasts obtained from patients with nephropathic cystinosis with residual cystinosin activity display a peculiar sensitivity to cysteamine

6:10 pm – 6:25 pm – Q&A and Discussion

6:25 pm – 6:30 pm – 5 MIN COMFORT BREAK

Session Six – Chair Dr Patrick Harrison

6:30 pm – 6:50 pm – General Workshop Discussion

6:50 pm – 7:05 pm – Wrap up, and Award of the Professor Roz Anderson Memorial Prize for Best Short Research Communication