International Symposium of the Lowe
‘Molecular and Clinical Advances in Lowe Syndrome
click here for invitation
Royal Society, December 3rd 2010
09.00h Registration, tea and coffee
09.30h Welcome - Lorraine Thomas, Founder and Chair of the Lowe Syndrome Trust, London, UK
MORNING SESSION Chair: Prof. Robert Unwin
09.40h Dr Detlef Bockenhauer (Paediatric Nephrology and Institute of Child Health, UCL, UK):
‘Clinical aspects of Lowe syndrome‘
10.10h Prof. Atul Mehta (Lysosomal Storage Diseases Unit and Centre for Haematology, UCL, UK):
‘Advances in lysosomal storage diseases’
10.40h Prof. Albert Ong (Academic unit of Nephrology, University of Sheffield, UK):
'How many ways to form a cyst?'
11.10h Prof. Joel Lunardi (Laboratoire de Biochimie de l'ADN, Grenoble, France):
'Correlations between mutations of the OCRL1 gene and the clinical and biochemical phenotypes'
11.40h Coffee break
11.50h Dr Geneviève Baujat (AP-HP Hôpital Necker, Génétique Pédiatrique, Paris, France):
'Retrospective evaluation of 49 Lowe patients: clinical variability and potential high risk of bleeding'
12.10h Dr Dominique Lasne (AP-HP Hôpital Necker, Laboratoire d’Hématologie, Faculté de Pharmacie, Paris, France):
'Bleeding disorders in Lowe syndrome due to primary haemostasis disorders'
12. 30h Prof. Robert Nussbaum (University of California at San Francisco, USA):
‘Mouse model for renal tubulopathy in Lowe syndrome and Dent disease type 2'
AFTERNOON SESSION Chair Prof. Shamshad Cockcroft
14.15h Prof. Pietro De Camilli (Biological and Biomedical Sciences, Yale University, USA):
‘Molecular interactions of OCRL in the endocytic pathway’
14.45h Dr Antonella De Matteis (Department of Cell Biology and Oncology, Consorzio Mario Negri Sud, Italy):
‘Impaired endosomal trafficking induced by the loss of function of OCRL’
15.15h Dr Claudio Aguillar (Department of Biological Sciences, Perdue University, USA):
‘Cellular phenotypes of Lowe syndrome patient's cells’
15.45h Tea and Coffee
Chair Prof. Philip Beales
16.00h Dr Martin Lowe (School of Biological Sciences, University of Manchester, UK):
'OCR L1 binding proteins and membrane traffic'
16.30h Dr Tim Levine (Department of Cell Biology, Institute of Ophthalmology, UCL, UK):
‘Lowe Syndrome protein OCRL1 supports maturation of polarized epithelial cells’
17.00h Dr Rudiger Woscholski (Division of Cell and Molecular biology, Imperial College London, UK):
‘PIP2 dependent pathways’
Chair Prof. Robert Unwin
17.30h Guest lecture: Prof. Raj Thakker (Nuffield Department of Medicine, University of Oxford, UK):
‘Insights into mechanisms of proximal renal tubular reabsorption and transport - lessons from Dent's disease and Lowe's syndrome’
18.30h Close of meeting (followed by drinks/nibbles)