European School of Genetic Medicine , Centro Residenziale Universitario , Bertinoro di Romagna
26th April -2nd May 2009
Saturday April 25 – Arrival at the University Residential Centre in Bertinoro Sunday, April, 26 – Introduction to Medical Genetics Morning Session 08:30 G. Romeo Commemoration of V.A. McKusick and overview of the course 09:00 D. Donnai Medical genetics today 09:45 A. Read Process of disease gene discovery-monogenic disorders 11:00 H. Dietz Marfan disease as paradigm for the transition from medical genetics to genetic medicine 11:45 H. Brunner Genotypes and phenotypes 12:30 Questions from students on morning lectures Afternoon session 14:30 Concurrent workshops 16:30 Concurrent workshops Monday, April, 27 – Cytogenetics and Clinical Genetics Morning Session 08:30 M. Speicher Cytogenetic techniques 09:30 H. Brunner Chromosomal syndromes 10:45 D. Donnai Genetic counseling 11:30 T. Frebourg Inherited forms of cancer: from molecular basis to clinical management 12:15 Questions from students on morning lectures Afternoon session 14:30 Concurrent workshops 16:30 Concurrent workshops Tuesday, April 28 – Model Systems and Technology Morning Session 08:30 V. van Heyningen Making eyes: development and disease in organs of extreme perfection 9:30 J. Flint Mouse models for neuropsychiatric disorders 10:45 H. Kazazian The thalassemia model 11:30 W. Chen Massive sequencing 12:15 Questions from students on morning lectures Afternoon session 14:30 Concurrent workshops 16:30 Concurrent workshops Wednesday, April 29 – Therapy and Ethical Issues Morning Session 08:30 G.J.van Ommen Duchenne muscular dystrophy 09:30 B. Wirth Spinal muscular atrophy: from gene to therapy 11:45 G.J. van Ommen Ethical and societal aspects of genomics 12:15 Questions from students on morning lectures Afternoon Session 13:45 Free afternoon Optional sightseeing tour to be organized (a small fee will be charged to the students who will join the tour) Thursday, April 30 – Neurogenetics and Complex Genetic Disorders Morning Session 08:30 E. Maestrini Complex traits 09:30 N. Tommerup Mendelian cytogenetics: balanced chromosomal rearrangements as a tool for identification of disease genes 10:45 J. Gecz ARX spectrum disorders 11:30 D. Valle Schizophrenia 12:15 Questions from students on morning lectures Afternoon session 14:30 Concurrent workshops 16:30 Concurrent workshops Friday, May 1 – New Approaches in Medical Genetics Morning session 9:30 V. van Heyningen Long distance gene regulation 12:15 Questions from students on morning lectures Afternoon session 14:30 Concurrent workshops 16:30 Concurrent workshops Saturday, May 2– Genetics of Mental Retardation- in collaboration with the FP7 Cherish Project Morning session 8:30 N. Tommerup Genetic dissection of comorbidity in brain disorders 9:30 J. Gecz Capitalising on genomics to understand the genetics and biology of (primarily X-Linked) learning disability 10:45 E. Eicheler CNV in evolution and disease 11:30 A. Schenck Drosophila as a model for mental retaradtion 12:15 Questions from students on morning lectures
Departure: after lunch (arrival in Bologna at around 16:00-16:30)
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Invited Speakers:
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DIRECTORS: Han Brunner (Nijmegen, The Netherlands), Giovanni Romeo (Bologna, Italy), Brunhilde Wirth (Cologne, Germany). FACULTY: W. Chen (Berlin, Germany), H.Dietz (Baltimore, USA), D. Donnai (Manchester, UK), E.Eichler (Seattle, USA), J. Flint (Oxford, UK), T. Frebourg (Rouen Cedex, France), J. Gecz (Adelaide, Australia), H. Kazazian (Philadelphia, USA), J. Lupski (Houston, USA), E. Maestrini (Bologna, Italy), A. Read (Manchester, UK), A. Schenck (Cary NC, USA), M. Speicher (Graz, Austria), N. Tommerup (Copenhagen, Denmark), D. Valle (Baltimore, USA), V.van Heyningen (Edinburgh, UK), G.J. van Ommen (Leiden, The Netherlands).
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