In February 2024, Cystinosis Ireland invited 40 experts in cystinosis research and treatment as well as experts working in the field of myopathy (muscle wasting) to join us for the 10th annual Dublin Cystinosis Workshop.
Speakers included keynote addresses from Dr Reza Sadjadi, Harvard Medical School, USA, on Clinical trial readiness, myopathy and dysphagia assessment in adults with Nephropathic Cystinosis; and Philippos Mourikis of East-Paris University, France, on Muscle stem cells and their niche and how it can be used to study severe and mild myopathy. Projects currently funded by Cystinosis Ireland were presented in video updates.
The meeting was delighted to award the 2024 Professor Roz Anderson memorial prize to Sante Princiero Berlingerio of KU Leuven, Belgium presenting his work “Targeting oxidative stress-driven lipid peroxidation improves podocyte dysfunction in cystinosis”.
The meeting took place over two days, with six sessions
Session 1 – Theme: Cystinosis myopathy: from childhood to adolescence.
Chair: Rik Gijsbers
Session 2 - Theme: Neuro-muscular expert view on cystinosis.
Chair: Atif Awan
Session 3 - Theme: Cystinosis Ireland Research project updates via video
Chair: Achim Treumann
Session 4 - Poster Session
Session 5- Theme: Stem cell-based models for myopathy (1)
Chair: Reza Sadjadi
Session 6 - Theme: Stem cell-based models for myopathy (2)
Chair: Paddy Harrison
Our Speakers
We’re delighted to bring together some of the most well known experts in the clinical and research fields as well as new and aspiring members of our community.
| Speaker | Institution | Country |
|---|---|---|
| Aude Servais | Necker Hospital | France |
| Bert van den Heuvel | KU Leuven | Belgium |
| Elena Levtchenko | Amsterdam UMC | Netherlands |
| Don Cairns | Robert Gordon University | Scotland |
| Detlef Böckenhauer | KU Leuven | Belgium |
| Francesco Emma | Ospedale Pediatrico Bambino Gesù | Italy |
| Herbie Newell | Sunderland University | England |
| Katharina Hohenfellner | RoMed Hospital Rosenheim | Germany |
| Reza Sadjadi | Harvard Medical School | USA |
| Pascal Laforêt | Raymond Poincaré University Hospital | France |
| Hélène Prigent | Raymond Poincaré University Hospital | France |
| Hayley Chang | University of Rochester | USA |
| Patrick Harrison | University College Cork | Ireland |
| Louise Medaer | KU Leuven | Belgium |
| Philippos Mourikis | East-Paris University | France |
| Rik Gijsbers | KU Leuven | Belgium |
| Maurilio Sampaolesi | KU Leuven | Belgium |
| Oumeja Adjali | French Institute of Health and Medical Research | France |
Organising Committee
Cystinosis Ireland is grateful for the skill, knowledge and expertise of our organising committee in developing this workshop.
Dr Rik Gijsbers - Associate Professor, Laboratory of Viral Vector Technology and Gene Therapy, Department of Pharmaceutical and Pharmacological Sciences, Faculty of Medicine, KU Leuven and DCW 2024 Scientific Chairperson
Dr Koenraad Veys - MD PHD, Paediatrician, Consultant in Pediatric Nephrology in UZ Leuven
Prof Atif Awan - Consultant Paediatric Nephrologists, Temple Street Children’s University Hospital, Dublin
Dr Reza Seyedsadjadi, MD Neurologist Director, Charcot-Marie-Tooth (CMT) Centre of Excellence Assistant Professor of Neurology, Harvard Medical School.
Dr Ruth Davis - Cystinosis Ireland Research Committee Member
Dr Paddy Harrison - University College Cork
Dr Thomas J McDonald - Bristol Myers Squibb and Cystinosis Ireland Board Member
Ms Anne Marie O’Dowd - Chairperson, Cystinosis Network Europe and Cystinosis Ireland Board Member
Ms Eibhlis Shanahan - Cystinosis Ireland Research Committee Member
Dr Achim Treumann - Director, Analytical Formulation Sciences and Site Head at KBI Biopharma BV – Cystinosis Ireland Scientific Advisor
Dr Tracey McCauley - Cystinosis Ireland Research Manager
Ms Denise Dunne - Cystinosis Ireland Operations Manager
The Professor Roz Anderson Memorial Prize is awarded to the best scientific research presentation made by an early career researcher in the field.
Cystinosis Ireland is delighted to announce the winner of the 10th Annual Dublin Cystinosis Workshop, Professor Roz Anderson Memorial Awardto Sante Princiero Berlingerio of KU Leuven, Belgium presenting his work “Targeting oxidative stress-driven lipid peroxidation improves podocyte dysfunction in cystinosis”.
Sante obtained his MSc in Biological Sciences in Bari (Università Degli Studi di Bari, Aldo Moro) were he joined the laboratory of Prof. Valenti to study Aquaporin 2 trafficking in the collecting duct of the kidney. Afterwards, he broadened his expertise in kidney disease by joining as a PhD student the laboratory of Pediatric Nephrology in KU Leuven, led by Prof. Elena Levtchenko and Prof. Lambertus van den Heuvel. During his doctoral studies, he developed an adult zebrafish model to study cystinosis and gained insights into the metabolic dysfunction of cystinosis podocytes, discovering that targeting oxidative stress-driven lipid peroxidation improves podocyte dysfunction in vitro and restores the glomerular filtration barrier in vivo.