Dublin Cystinosis Workshop 2024

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.