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From2005-05-15
To2005-05-21
Course
No more fellowships available
15 fellowships from the Eumedis Program of the European Commission, covering tuition and living expenses (no travel), are available for citizens of the following States: Algeria, Cyprus, Egypt, Malta, Morocco, Israel, Jordan, Lebanon, the Palestinian Autonomous Territories, Syria, Tunisia and Turkey. These students must provide: a poster to be shown at the course and a short report about its scientific returns.
Fee: ? 1.300 (including tuition, course material, room and board for the whole duration of the event, but NOT travel expenses).
European School of Genetic Medicine
18th Course inMEDICAL GENETICS
May 15th ? 21st, 2005
Bertinoro di Romagna, ITALY
Last update: May 17th, 2005
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)
Saturday, May 14th ? Arrival at the University Residential Centre of Bertinoro
Sunday, May 15th ? Introduction to Genetic Analysis
Morning Session
08:30
V.A. McKusick
March of Dimes key-note lecture
?
H.-Hilger Ropers
Large-scale identification of disease genes
?
Coffee Break
?
?
H. Brunner
Genotypes and phenotypes
?
P. Forabosco
Linkage analysis
?12:30
?
Questions from students on morning lectures
?13:00
?Lunch Break
Afternoon Session
14:30
?
Concurrent workshops
?
?Coffee Break
?
?
Concurrent workshops
18:00
?
Session end
Monday, May 16th ? Clinical Genetics
Morning Session
08:30
G. Romeo
Non-Mendelian inheritance
?
J. Hoover-Fong
An illustrated Glossary of Clinical Genetics
?
Coffee Break
?
?
J.A. Veltman
New approaches in Molecular Cytogenetics
?
O. Zuffardi
Genomic disorders
12:30
?
Questions from students on morning lectures
13:00
Lunch Break
?
Afternoon Session
14:30
?
Concurrent workshops
?
Coffee Break
?
?
?
Concurrent workshops
18:00
?
Session end
Tuesday, May 17th ? Functional genomics model studies
Morning Session
08:30
K. Rhoden
Introduction to Pharmacogenomics
?
J.L.V. Galietta
High-throughput screening for the identification of new drugs for cystic fibrosis
?
Coffee Break
?
?
D.di Bernardo
System Biology approaches to drug discovery and gene function
?
A. Ballabio
The Master andCommander of Sulfatases
12:30
?
Questions from students on morning lectures
13:00
Lunch Break
?
Afternoon Session
14:30
?
Concurrent workshops
?
Coffee Break
?
?
?
Concurrent workshops
18:00
?
Session end
Wednesday, May 18th ? Molecular genetics
Morning Session
08:30
A. Metspalu
Population based bio banks in genetic research
?
M. Jabs
Molecular basis of developmental anomalies
?
Coffee Break
?
?
T. Meitinger
The genetics of blindness
?
N. Katsanis
Oligogenic Inheritance in Human Disease
12:30
?
Questions from students on morning lectures
13:00
Lunch Break
?
Afternoon Session
14:30
?
Concurrent workshops
Evening Session
21:00
?
Concurrent workshops
Thursday, May 19th ? Complex Genetic Disorders
Morning Session
?
F. Clerget-Darpoux
Is there a standardized strategy for the study of multifactorial diseases ?
?
P. Deloukas
The Hap Map project
?
Coffee Break
?
X. Estivill
Genetics of Eating Disorders
?
G. Romeo
Introduction
?
?P. Robinson/ M. Mehnert
Presentation of ESGM E-Text books
?
?
Questions from students on morning lectures
12:00
Lunch Break
?
?
?
Sightseeing
Friday, May 20th ? Model disease: Marfan syndrome
Morning Session
08:30
V.A. McKusick
Historical background
?
H. Dietz
New insights into the pathogenesis and treatment of Marfan syndrome
?
Coffee Break
?
?
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
12:30
?
Questions from students on morning lectures
13:00
Lunch Break
?
Afternoon Session
14:30
?
Concurrent workshops
?
Coffee Break
?
?
?
Concurrent workshops
18:00
?
Session end
Saturday, May 21st ? Other model diseases and evolutionary studies
Morning Session
08:30
A. Cao
Thalassemia as a model
?
D. Higgs
Thalassemia: regulation
?
Coffee Break
?
?
V. Carelli
Mitochondrial disorders
?
N. Katsanis
Low copy repeats and their use as evolutionary beacons
12:30
?
Questions from students on morning lectures
13:00
Lunch Break
?
Departure: Saturday Afternoon
WORKSHOP LIST
?
E. Arbustini
Case presentation and resolution
?
A. Ballabio
EURExpress web-linked database
?
H. Brunner
Making a clinical syndrome diagnosis
?
F. Clerget-Darpoux
The affected sib pair method: a ?model free? linkage analysis for multifactorial diseases
?
P. Deloukas
How to access sequence variation information on the web
?
D. di Bernardo
Modelling of gene networks
?
H. Dietz
Combining a Career in Clinical and Research Genetics
?
X. Estivill
Segmental duplications, evolution and disease
?
J.L.V. Galietta
Chemical Compounds and Cell-Based Screenings as Potent Tools for Biomedical Research
?
J. Hoover-Fong
Skeletal Dysplasias: organization and evaluation
?
M. Jabs
Molecular dysmorphology
?
N. Katsanis
The land in between: investigating the genetic aetiolgy of oligogenic traits
?
T. Meitinger
The design of association studies by rule of thumb
?
A. Metspalu
SNP genotyping- one size doesn?t fit all: an array of the methods
?
K. Rhoden
Pharmacogenomic diagnostic technology
?
P.N. Robinson
Strap
?
P.N. Robinson
Gene Ontology for Analysis of Microarray Data
?
H. Hilger Ropers
Large-scale elucidation of genetic diseases: data analysis and related issues
?
J.A. Veltman
Microarray-based comparative genomic hybridization
?
J.A. Veltman
Protocols
?
F. Vogl/P. Forabosco
Linkage analysis with computer
?
F. Vogl/P. Forabosco
Linkage analysis with pencil and paper
?
F. Vogl
Uses of isolated populations for localizing disease genes
?
O. Zuffardi
Problems in cytogenetics interpretation: a few examples
Venue
Directors
Speakers
Programme
Bertinoro di Romagna, ITALY
May 15th-21st, 2005
 
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)
European School of Genetic Medicine