From | 2008-05-04 |
To | 2008-05-10 |
Course |
Medical Genetics is a week-long postgraduate level course addressed to both researchers and clinicians seeking an up-to-date overview of the field of medical genetics today. It provides an overall view of the clinical developments which are taking place in the major application fields of modern genetics in different medical specialties. The topics covered in the present edition are: Introduction to Contemporary Genetic Analysis, Clinical Genetics, Genetics and diseases, Different approaches to Therapy for genetic disorders and immunogenetics, Mitochondrial Medicine, Neurogenetics and Ethical issues, Complex disorders and others. |
Venue | Bertinoro di Romagna, ITALY |
Directors | V.A. McKusick (Baltimore, USA), H. Brunner (Nijmegen, The Netherlands), G. Romeo (Bologna, Italy) |
Speakers | J. Bertranpetit (Barcelona, Spain), V. Carelli (Bologna, Italy), S. Desiderio (Baltimore, USA), D. Donnai (Manchester, UK), L. Greco (Napoli, Italy), E. W. Jabs (New York, USA), N. Katsanis (Baltimore, USA), M. Macek (Prague, Czech Republic), E. Maestrini (Bologna, Italy), T. Meitinger (Munich, Germany), D. Monckton (Glasgow, UK), M. Netea (Nijmegen, The Netherlands), A. Read (Manchester, UK), M. Speicher (Graz, Austria), A. Spinazzola (Milan, Italy), G.J. van Ommen (Leiden, The Netherlands), D. Wallace (Irvine, USA), B. Wirth (Cologne, Germany) |
Programme | Saturday May 3 - Arrival at the Univeristy Residential Centre in Bertinoro
Sunday May 4 - Introduction to Contemporary Genetic Analysis
Morning Session
08:30
V.A. McKusick
Medical genetics and genomics: a personal 60-year overview
09:40
D. Donnai
Medical Genetics today
10:30
COFFEE BREAK
11:00
E. Maestrini
Linkage analysis
11:45
H. Brunner
Genotypes and Phenotypes
12:30
Questions from students on morning lectures
13:00
Lunch break
Afternoon Session
14:30
Concurrent Workshops
16:00
Coffee break
16:30
Concurrent workshops
Monday, May 5 ? Clinical Genetics and Population variation
Morning Session
08:30
A. Read
Basic concepts in populaion genetics
09:30
D. Donnai
Basic concepts in Dysmorphology and Syndrome classification
10:15
Coffee Break
10:45
M. Speicher
Development of technologies for the new cytogenetics
11:30
H. Brunner
Chromosomal syndromes
12:15
Questions from students on morning lectures
13:00
Lunch break
Afternoon session
14:30
Concurrent workshops
16:00
Coffee break
16:30
Concurrent workshops
Tuesday, May 6 ? Genetics and diseases
Morning Session
08:30
E. Jabs
t.b.d.
9:30
N. Katsanis
Dissecting oligogenic traits
10:15
Coffee Break
10:45
H. Brunner
Network of genes
11:30
N. Katsanis
Cilia as primary environmental sensors. Implications to genetic disease
12:15
Questions from students on morning lectures
13:00
Lunch Break
Afternoon Session
14:30
Concurrent workshops
16:00
Coffee break
16:30
Concurrent workshops
Wednesday, May 7 ? Mitochondrial Medicine
Morning Session
08:30
D. Wallace
A Mitochondrial Paradigm for Degenerative Diseases, Cancer and Aging: A Dawn for Evolutionary medicine
09:30
V. Carelli
Optic nerve degeneration: a mitochondrial disease of two genomes
10:30
Coffee Break
11.00
A. Spinazzola
Disorders of nuclear-mitochondrial intergenomic communication
11:45
G. Romeo
Mithocondria and Cancer
12:15
Questions from students on morning lectures
13:00
Lunch Break
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, May 8 - From the clinic to the DNA lab
Morning Session
08:30
A. Read
Interpreting DNA lab results
09:30
D. Monckton
Myotonic dystrophy: simple repeats in complex disorders
10:15
Coffee Break
10:45
D. Monckton
Unstable DNA and human disease (covering molecular genetics and molecular pathology of the other repeat expansion disorders including Huntington disease and fragile X syndrome)
11:30
E. Jabs
Developmental genetics and animal model systems
12:15
Questions from students on morning lectures
13:00
Lunch Break
Afternoon session
14:30
Concurrent workshops
16:00
Coffee break
16:30
Concurrent workshops
Friday, May 9 - Different approaches to Therapy for genetic disorders
Morning session
8:30
G.J.Van Ommen
Induced splicing of the dystrophin gene
9:30
B. Wirth
Spinal muscular atrophy: from gene to therapy
10:15
Coffee Break
10:45
M. Macek
Cystic fibrosis: a model disorder for molecular pathogenesis and mutation specific therapies
11:30
L. Greco
Coeliac disease
12:15
Questions from students on morning lectures
13:00
Lunch break
Afternoon session
14:30
Concurrent workshops
16:00
Coffee break
16:30
Concurrent workshops
Saturday, May 10 - Human Variation and Complex Disorders
Morning session
8:30
J. Bertranpetit
How many gaps are we missing to understand the genetic bases of complex diseases? A biomedical approach
9:30
T. Meitinger
Mapping quantitative traits in humans
10:15
Coffee break
10:45
M. Netea
Migration drives evolution of innate immune system
11:30
S. Desiderio
Genome plasticity in the developing immune system
12:15
Questions from students on morning lectures
13:00
Lunch break
Departure: after lunch (arrival in Bologna at around 16:00-16:30) |