European School of Genetic Medicine, Bertinoro di Romagna (ITALY)
15th – 21st May, 2005
Sunday, 15th May – Introduction to Genetic AnalysisV.A. McKusick: March of Dimes key-note lecture
H.-Hilger Ropers: Large-scale identification of disease genes
H. Brunner: Genotypes and phenotypes
P. Forabosco: Linkage analysis
Concurrent workshops
Monday, 16th May – Clinical Genetics J. Hoover-Fong: An illustrated Glossary of Clinical Genetics
A. Ballabio: The Master and Commander of Sulfatases
J.A. Veltman: New approaches in Molecular Cytogenetics
O. Zuffardi: Genomic disorders
Concurrent workshops
Tuesday, 17th May – Functional genomics model studies
K. Rhoden: Introduction to Pharmacogenomics
J.L.V. Galietta: High-throughput screening for the identification of new drugs for cystic fibrosis
D. di Bernardo: System Biology approaches to drug discovery and gene function
A. Metspalu: Population based bio banks in genetic research
Concurrent workshops
Wednesday, 18th May – Molecular genetics G. Romeo: Non-Mendelian inheritance
M. Jabs: Molecular basis of developmental anomalies
T. Meitinger: The genetics of blindness
N. Katsanis: Oligogenic Inheritance in Human Disease
Sightseeing tour
Thursday, 19th May – Complex Genetic Disorders S.E. Antonarakis: Trisomy 21: Understanding its molecular pathophysiology
F. Clerget-Darpoux: Is there a standardized strategy for the study of multifactorial diseases?
P. Deloukas: The Hap Map project
X. Estivill: Genetics of Eating Disorders
Concurrent workshops
Friday, 20th May – Model disease: Marfan syndrome
V.A. McKusick: Historical background
H. Dietz: New insights into the pathogenesis and treatment of Marfan syndrome
P. Robinson: Molecular Pathogenesis of Marfan Syndrome
E. Arbustini: Living with Marfan Syndrome. From clinical diagnosis to molecular genetics and related benefits for patients and families
Concurrent workshops
Saturday, 21st May – Other model diseases and evolutionary studies
A.Cao : Thalassemia as a model
D. Higgs: Thalassemia- Regulation
V. Carelli: Mitochondrial disorders
N. Katsanis: Low copy repeats and their use as evolutionary beakon
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Invited Speakers:
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DIRECTORS:
V.A. McKusick (Baltimore, USA),S.E. Antonarakis (Geneva, SWITZERLAND), G. Romeo (Bologna, ITALY)FACULTY:
E. Arbustini (Pavia, ITALY), A. Ballabio (Naples, ITALY), H. Brunner (Nijmegen, NETHERLANDS), A. Cao (Cagliari, ITALY),V. Carelli (Bologna, Italy), F. Clerget-Darpoux (Paris, France), P. Deloukas (Hinxton, UK),D. di Bernardo (Naples, ITALY), H. Dietz (Baltimore, USA), X. Estivill (Barcelona, SPAIN), P. Forabosco (Cagliari, ITALY), J.L.V. Galietta (Genova, ITALY), D. Higgs (Oxford, UK), J. Hoover-Fong (Baltimore, USA), M. Jabs (Baltimore, USA), N. Katsanis (Baltimore, USA), T. Meitinger (Munich, GERMANY), A. Metspalu (Tartu, ESTONIA), K. Rhoden (Bologna, ITALY), P. Robinson (Berlin, GERMANY), H.-Hilger Ropers (Berlin, GERMANY), J.A. Veltman (Nijmegen, THE NETHERLANDS), F. Vogl (Bolzano, ITALY), O. Zuffardi (Pavia, ITALY)
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