September 6th 2010 (Monday) Centro de Docencia Hospital Universitario Miguel Servet. Aula Edificio Consultas Externas. C/.
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1 UPDATE IN THE MANAGEMENT OF GAUCHER DISEASE AND OTHER LYSOSOMAL DISORDERS PROGRAMME September 6-9th, 2010 Co-Directors Program MD, PhD - Miguel Servet University Hospital. CIBERER Miguel Pocovi, Profesor - Zaragoza University. CIBERER Zaragoza, Spain September 6th 2010 (Monday) Centro de Docencia Hospital Universitario Miguel Servet. Aula Edificio Consultas Externas. C/. Cardenal Gomá, 4 To all attendees 16:00-16:10. Welcome/ Opening and Miguel Pocovi 16:10-16:30. Lysosomal Diseases: An overview, emerging new treatments 16:30-17:00. Introduction to enzymatic and genetic diagnosis of Lysosomal Diseases Miguel Pocovi. Coffee Break 17:20-17:45. Evaluating Gaucher Disease by imaging techniques Mercedes Roca 17:45-18:00. Biomarkers in the diagnosis and follow-up of Gaucher Disease Pilar Irun 18:00-18:40. Neurological complications of Gaucher Disease. Neurophysiological exam in Gaucher Disease Alicia Saenz de Cabezón
2 18:40-19:00. Discussion September 7th 2010(Tuesday) Group 1 Laboratorio de Bioquímica, Biología Molecular y Celular Facultad de Ciencias. Universidad de Zaragoza Campus Pza San Francisco 9:00-13:30. Tour to Laboratory and Practices: Enzymatic Diagnosis of Gaucher, Fabry and Niemann-Pick A/B Diseases Group 2 Hospital Universitario Miguel Servet Servicio de Hematología Pº Isabel la Católica 1-3 9:00-13:00. Clinic Tour and Hospital Installations Clinical training:. Clinical evaluation of Gaucher Disease patients. Neurological exam of Gaucher Disease patients Neurologist. Neurophysiological examination of Gaucher Disease patients Alicia Saenz de Cabezón. ORL evaluation Jesús Fraile 14:00-16:00 Expert Meeting Lunch To all attendees FEETEG Gral Sueiro, 35 2º izda Zaragoza
3 Evaluation of liver deposits by RM Luis Sarria. Sº de Radiodiagnóstico. Hospital Universitario Miguel Servet Evaluation of hearing loss in GD Jesús Fraile. Sº ORL. Hospital Universitario Miguel Servet 16:00-18:00. FEETEG Registry and Clinical Trials Paz Latre September 8th 2010 (Wednesday) Group 2 Laboratorio de Bioquímica, Biología Molecular y Celular Facultad de Ciencias. Universidad de Zaragoza Campus Pza San Francisco 9:00-13:30. Tour to Laboratory and Practices: Enzymatic Diagnosis of Gaucher, Fabry and Niemann-Pick A/B Diseases Group 1 Hospital Universitario Miguel Servet Servicio de Hematología Pº Isabel la Católica 1-3 9:00-13:00. Clinic Tour and Hospital Installations Clinical training:. Clinical evaluation of Gaucher Disease patients. Neurological exam of Gaucher Disease patients Neurologist. Neurophysiological examination of Gaucher Disease patients Alicia Saenz de Cabezón.. ORL evaluation
4 Jesús Fraile 14:00-16:00 Expert Meeting Lunch To all attendees FEETEG Gral Sueiro, 35 2º izda Zaragoza Bone density studies in Gaucher Disease Ignacio Civeira. CEINOS Functional Neuroimaging applications in GD Javier Banzo. Sº de Medicina Nuclear. Hospital Clínico Universitario 16:00-18:00. Evaluation of Quality of Life. Gaucher Disease. Therapy Decisions. Case presentations and Discussion Paz Latre September 9th 2010 (Thursday) To all attendants Laboratorio de Bioquímica, Biología Molecular y Celular Facultad de Ciencias. Universidad de Zaragoza Campus Pza San Francisco 9:30-14:30 Practices:. Genetic Analysis of GD, Fabry, NPA/B and NPC. Biomarkers determinations Practices: 14:00-16:00 Lunch To all attendants Centro de Diagnóstico Dra Roca
5 C/. Carrera del Sábado, Zaragoza 16:30-19:30. Practices of Radiological Studies: MRI, US Densitometry Mercedes Roca Faculties Pilar Alfonso PhD Research Lab. Miguel Servet University Hospital. CIBERER Javier Banzo. MD PhD Sº de Medicina Nuclear. Hospital Clínico Universitario José Luis Capablo MD PhD Neurology Department. Miguel Servet University Hospital. CIBERER Ignacio Civeira Murillo. MD PhD CEINOS Jesús Fraile. MD PhD Sº ORL. Hospital Universitario Miguel Servet Javier Gervas Arruga. B.SC & M.SC Laboratorio de Investigación Molecular. Hospital Universitario Miguel Servet MD, PhD Haematology Department. Miguel Servet University Hospital. CIBERER Pilar Irún PhD Biochemistry and Molecular Biology Department. Zaragoza University CIBERER. Paz Latre MD General Practicioner. CIBERER Miguel Pocovi, Professor Biochemistry and Molecular Biology Department. Zaragoza University. CIBERER Mercedes Roca MD PhD International Skeletal Society. CIBERER Alicia Saenz de Cabezón MD Neurophysiology Department. Miguel Servet University Hospital. CIBERER
6 Objectives The aim of this course is to provide an update in diagnosis, follow-up, monitoring and treatment of Gaucher disease and other lysosomal disorders. The training will be provided by experts in multidisciplinary areas related to the particular features of storage diseases. This course is directed to physicians with some experience in diagnosis and treatment of lysosomal diseases. Admission is restricted to maximum of 6 people Those interested will be admitted by order of registration Contact: FEETEG. General Sueiro, 35, 2º izda Zaragoza, Spain feeteg@fehha.org
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