7th Annual Dublin Cystinosis Workshop, 20th May 2021

Cystinosis Ireland is proud to announce the 7th Annual Dublin Cystinosis Workshop will take place online, on Thursday 20 May 2021 from 11:45 to 19:30 (Irish Local Time).

All times below are Dublin, Ireland local time.  If you would like to attend the Dublin Cystinosis Workshop, please email [email protected].

11:45 Welcome to delegates – Session Chair: Prof Elena Levtchenko
12:00 Keynote Scientific speaker – Professor David Sabatini, Professor of Biology, Whitehead Institute, MIT, USA – MFSD21 transports cysteine into lysosomes and melanosomes
12:30 Discussion / Q&A
12:40 Cystinosis Research – New Research Results and Novel and Exploratory Research Directions – Short Communiques – Session Chair: Dr Patrick Harrison
12:40 Dr Jennifer Hollywood – University of Auckland, New Zealand – MFSD12 a candidate therapeutic target for a new class of cystinosis drugs?
12:50 Pang Yuk Cheung – University of Auckland, New Zealand – Optimisation of oral cysteamine dosing in Ctns knockout rats
13:00 Tjessa Bondue – KU Leuven, Belgium – The potential of CTNS-mRNA loaded nanoparticles to treat cystinosis
13:10 Elena Sendino Garví – Utrecht University, The Netherlands – Generation of a novel bioengineered 3-dimensional model of renal cystinosis
13:20 Louise Medaer – KU Leuven Belgium – Employing isogenic cell models to study the interactome of cystinosin and the underlying mechanism of cystinosis myopathy
13:30 Discussion / Q&A
14:15 Keynote Scientific Speaker – Professor John Foxe –  University of Rochester School of Medicine and Dentistry – Exploring the Neurophysiology of Cyntinosis.  Session Chair: Dr Jennifer Hollywood
14:45 Discussion / Q&A
14:55 Cystinosis Research – New Research Results and Novel and Exploratory Research Directions – Short Communiques – Session Chair: Dr Jennifer Hollywood
14:55 Dr Valeria Graceffa – Institute of Technology Sligo, Ireland – Fibrin hydrogels releasing the CTNS gene for the treatment ocular cystinosis 
15:05 Dr Roisin O’Flaherty – Maynooth University, Ireland – Serum IgG Glycosylation in Cystinosis
15:15 Dr Emyr Lloyd-Evans – Cardiff University, Wales – Introducing the Cardiff University Rare diseasE (CURE) network to the cystinosis community and Novel fluorescence probe approach for analysing lysosomal cystine accumulation and clearance by microscopy 
15:25 Dr Julia Hannah Quitmann – University Medical Centre, Hamburg, Germany – Development of a patient-reported outcome to measure health-related quality of life in children and adolescents with cystinosis 
15:35 Dr Swastika Sur – University of California, San Francisco, USA – Loss of Renal Epithelial Cell-Specific V-ATPase Subunit Restricts Mitochondrial Function and Autophagosome-Lysosome Clearance by Perturbing Intracellular Acidic pH in Nephropathic Cystinosis 
15:45 Discussion / Q&A
16:45 Ireland as a cystinosis clinical trial hub – Session Chair: Prof Atif Awan
16:45 Dr Jennifer Ralph James – Head of the National Office for Research Ethics Committees, Ireland – Irish Doors are Open for Clinical Trial and Medical Device Research
16:55 Dr Geraldine O’Dea – Health Products Regulatory Agency, Ireland –  Presentation title to be confirmed
17:05 Dr Cormac McCarthy / Dr Rachel Crowley – University College Dublin, Ireland – A Rare Disease Clinical Trials Network in Ireland
17:15 Professor Francesco Emma – Worldwide Cystinosis Registry … A key infrastructure for cystinosis clinical trials? 
17:30 Discussion / Q&A
18:00 Snapshots of clinical trials in the cystinosis world – Session Chair: Prof Elena Levtchenko
18:00 Professor Herbie Newell C.B.E. – University of Sunderland, UK – An update on the development of the cysteamine prodrug CF10
18:10 Professor Paul Goodyer MD – McGill University, Canada – Update on the development of a drug therapy for cystinosis nonsense
18:20 Professor Anuj Chauhan – Colorado School of Mines, CO, USA – Cystinosis therapy by contact lenses
18:30 Professor Stephanie Cherqui – UCSD, USA – Hematopoietic stem cell gene therapy for cystinosis: updated results from a phase I/II clinical trial
18:40 Cécile L. Berends – Centre for Human Drug Research, Leiden, The Netherlands – A novel sustained‐release cysteamine bitartrate formulation for the treatment of cystinosis: Pharmacokinetics and safety in healthy male volunteers
18:50 Discussion / Q&A
19:05 Voting on best presentation (short communiques)
19:10 Professor Dr Elena Levtchenko – KU Leuven, Belgium – Heads up on next EU Rare Disease programme 
Agree next steps?
19:20 Wrap up and Prize Giving – Chairman of Cystinosis Ireland – Mr Mick Swift