JavaScript Menu, DHTML Menu Powered By Milonic

Partners

Participant 7

Charles-University Prague

Partner 7: Department of Pediatrics, Charles University, 120 00 Prague 2, Ke Karlovu 2, Czech Republic, (Team leader/Responsible Scientist: Prof. Jiri Zeman, MD, DrSc). Key skills: Clinical judgement, Medical insight, Contact for Clinicians, patients and patient organisations, Lysosomal storage diseases, mitochondrial diseases, enzyme replacement therapy

Laboratory (clinical) background and technical information: The Department of Pediatrics and the Institute for Inherited Metabolic Disorders, as the part of the Faculty of Medicine are engaged in pregradual and postgradual teaching programmes for students and they also serve as the Diagnostic Center for Inherited Metabolic Disorders in ther Czech Republic and the Center for Enzyme Replacement Therapy for patients with Gaucher and Fabry diseases from Czech Republic. We are for several decades involved in research programmes in the field of inherited metabolic disorders including projects focussed on the biogenesis of lysosomal storage disease and mitochondrial diseases, which significantly contributed to characterisation of several lysosomal and mitochondrial enzymes and proteins and their role in mammalian cells in pathological conditions.

Capacity to contribute to the project: The institute is well acquainted with cell culture methods, cell immortalization, preparation of expression vectors and transfection techniques, gene-transfer approaches based on preparation of transmitochondrial cybrids, different membrane biochemical and enzymological techniques, preparation and use of antibodies for protein studies (Western blotting, immunoprecipitation, immunofluorescence), analysis of nucleic acids (Northern, Southern, South-Western blotting, PCR-based site selection, in vitro translation, etc.). Cultivated fibroblasts from three patients with á.mannosidosis from Czech Republic will be available for metabolic studies and the families of patients agree with clinical investigation related to WP6 (the natural history study). Members involved: Ing Jana Ledvinova,Ph.D, group leader: biochemical studies in cultivated fibroblasts and tissues and Befekadu Asfaw Ph.D., biochemist (6 pm) will be responsible for biochemical experiments. One paediatrician (Eva Flachsova, MD) will be responsible for clinical studies (12 pm) and one Ph.D. student (Jana Keslova) will be invovled in biochemical analyses (12 pm). Consumeables: Travelling of the patients, hotel costs for the patients/parents.

Contributing members of the laboratory: Prof. Jiri Zeman,MD,DrSc, Head of the metabolic unit, supervision of enzyme replacement project (6 pm); Prof. Milan Elleder,MD,DrSc, Head of the Institute for Inherited Metabolic Disorders Advisor in scientific questions (12 pm)

TOTAL EXPECTED EFFORT: 48 pm

Back to top...