Medical Genetics is a 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 Medical Genetics and Genome Analysis, Cytogenetics and Clinical Genetics, New Approaches in Medical Genetics, Complex Genetic Disorders, Therapy, Technology and Ethical Issues.
On May 24th afternoon, it will be organized a Public Understanding Genetics event in honor of Mario Capecchi and in memory of Victor A. McKusick, founder of the European School of Genetic Medicine.
H. Brunner (Amsterdam, The Netherlands)
G. Romeo ( Bologna, Italy)
B. Wirth (Cologne, Germany)
H. Brunner (Nijmegen
M. Capecchi (Salt Lake City)
E. Colonna (Cambrige)
D. Donnai (Manchester)
J. Gecz (Adelaide)
S. Lyonnet (Paris)
B. Loeys (Belgium)
N. Katsanis (Durham)
A. Read (Manchester)
G. Romeo (Bologna)
D. Valle (Baltimore)
J. Veltman (Nijmegen)
J. Vermeesch, (Leuven)
B. Wirth (Cologne)
B. Wollnik ( Cologne)
Sunday, May 20
Morning Session: Introduction to Human Genome Analysis
08.00 – 08.30 Registration to the course
08.30 – 08.45 Introduction to the course
G. Romeo
08.45 – 09.35 Medical Genetics Today
D. Donnai
09.35– 10.15 Genotypes & phenotypes
H. Brunner
10.15– 10.40 Coffee Break
10.40 – 11.30 Arrays & CNVs
J. Vermeesch
11.30 – 12.20 Genome sequencing
J. Veltman
12.20 – 14.00 Lunch Break and tour of the Hermitage of Ronzano
14.00 –14.30 Poster Viewing Session
Afternoon Session:
14.30 – 16.00 Concurrent Workshops
16.00-16.30 Coffee Break
16.30 – 18.00 Concurrent Workshops
Monday, May 21
Morning Session: Approaches to Clinical and Molecular Genetics
08.30 – 9.20 Dysmorphology
D. Donnai
9.20 – 10.10 Linkage and association in a conceptual and historic perspective
A. Read
10.10 – 10.40 Coffee Break
10.40- 11.30 Molecular syndromology in the NGS-era: which phenotype, which family,
which strategy?
B. Wollnik
11.30 – 12.20 NGS and identification of genes responsible for I.D.
J. Veltman
12.20 – 14.00 Lunch Break
14.00-14.30 Poster Viewing Session
Afternoon Session:
14.30 – 16.00 Concurrent Workshops
16.00-16.30 Coffee Break
16.30 – 18.00 Concurrent Workshops
(among these: Human Evolution and the 1000 Genomes Project E. Colonna)
Tuesday, May 22
Morning Session: From monogenic to complex genetic disorders
08.30 – 09.20 Marfan syndrome and related disorders: lessons from monogenic
disorders for common diseases
B. Loeys
09.20 – 10.10 Aging phenotypes
B. Wollnik
10.10 – 10.40 Coffee Break
10.40 – 11.30 Oligogenic inheritance
N. Katsanis
11.30 – 12.20 Non-coding genomic alterations in disease.
S. Lyonnet
12:20 – 14.00 Lunch Break
14.00 –14.30 Poster Viewing Session
Afternoon Session:
14.30 – 16.00 Concurrent Workshops
16.00-16.30 Coffee Break
16.30 – 18.00 Concurrent Workshops
Wednesday, May 23
Morning Session: New approaches for identification of I.D. genes and therapy
08.30 – 09.20 Genes and behaviour
H. Brunner
09.20 – 10.10 X linked genes for I.D.
J. Gecz
10.10 – 10.40 Coffee Break
10.40 – 11.30 Gene therapy
M. Capecchi
11.30 – 12.20 SMA: From gene and modifiers to therapy
B. Wirth
12.20 – 12:40 Short presentation of the results of the CHERISH EU project
12.40 – 14.00 Lunch Break
14.00 –14.30 Poster Viewing Session
Afternoon Session:
14.30 – 16.00 Concurrent Workshops
16.00-16.30 Coffee Break
16.30 – 18.00 Concurrent Workshops
Thursday, May 24
Morning Session: Perspectives in Medical Genetics
08.30– 09.20 Best Posters Presentations by students
09.20 – 10.10 Ethics A. Read
10.10 – 10.40 Coffee Break
10.40 – 11.30 Discussion led by A. Read (together with Prof. Lap-Chee Tsui - Vice Chancellor of HKU): How will genome sequencing change medical genetics?
11.40 Wrapping up of the course
12.00 Lunch
Bologna and Portland meet the 2007 Nobel Laureate in Medicine, Mario Capecchi
Bologna, 23-24 May 2012
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Wednesday, May 23rd — 15:00 h.
Sala del Consiglio (Palazzo d’Accursio – City Hall of Bologna)
The Mayor of Bologna, Virginio Merola, presents the award “Il Nettuno d’Oro”
to Mario Capecchi
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Thursday, May 24th — 15:30 h.
Stabat Mater Hall of the Archiginnasio (historical venue the University of Bologna)
“Genetics Today”: Bologna and Portland, Oregon meet the 2007 Nobel Laureate in Medicine,
Mario Capecchi
15.30: Welcome: the President of the University Ivano Dionigi and the Vice Mayor of Bologna Silvia Giannini
16.00 CHERISH project presentation: “Research and the European challenges for the identification of genes causing intellectual disabilities” by the project European Partners.
16.30 Presentation by Emanuele Panza “My four years of work in Mario Capecchi’s laboratory”
17.00 Presentation by Mario Capecchi and connection with Portland, Oregon
17.45 Bologna - Portland (Oregon) teleconference to celebrate eight years of twinning: brief history of the two cities and of Mario Capecchi’s maternal family, the Dodd of Portland, Oregon
Conclusions Giovanni Romeo (Bologna)—Bill Horton (Portland, Oregon) “The European School of Genetic Medicine, Mario Capecchi and the human and scientific legacy of two great mentors, Giuseppe Levi (1872 – 1965) and Victor A. McKusick (1921 – 2008)”.
Simultaneous translation into English and Italian will be available.
The schedule refers to local Italian time
REGISTRATION FEE: €850+ VAT (21%) if applicable
The fee includes tuition, course material, lunches, coffee breaks, transportation from Porta San Mamolo (meeting point) to the course venue and back, touristic tour of Bologna.
Please note:
The Value Added Tax, or VAT, in the European Union is a general, broadly based consumption tax assessed on the value added to goods and services.
In Italy the VAT percentage on the course fee is 21%.
You can be eligible for a VAT reduction in the following cases:
- You are ITALIAN and work for a PUBLIC INSTITUTION (PhD, students, Researchers, Post Doc, …) in this case please contact your course officer to obtain the reduction form
- You are NOT ITALIAN and work in a FOREIGN COUNTRY WITHIN EC. The invoice must be addressed to your Institution/Company and it is NECESSARY to complete the field VAT Number. You will be exempted from the payment of VAT
- You are NOT ITALIAN and work in a FOREIGN COUNTRY OUTSIDE EC. The invoice must be addressed to your Institution/Company. In this case you will be automatically exempted from the payment of VAT
If the invoice is addressed to yourself you are not exempted from Vat payment.
For more details please visit the FEE section in the FAQs
ACCOMMODATION: The fee doesn’t include the hotel accommodation.
For more information please visit the section: ACCOMMODATION INFO
Fellowships list:
| 1. Shahida | Moosa |
| 2. Renata Filipa | Reis Sequeira Rodrigues d`Oliveira |
| 3. Mona Mohammed | Hashim Ellaithi |
| 4. Abdulrahim Khalifa | Al-Alabri |
| 5. Gunay | Akbarova |
Fellowships cover only the course fee.
POSTERS:
Abstracts of Posters should be submitted by April 18th, 2011
Please send them to: serena.paterlini@eurogene.org
ATTENTION: The excursion to the 5 Terre has been canceled due to the difficult transportation and logistical conditions still affecting the area after the flooding of the past year. It will be replaced by a touristic tour of Bologna.
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European Society of Human Genetics
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Via di Gaibola, 16 - 40136 Bologna
Codice Fiscale 90037630101
Via Ciccarello, 77 - 89132 Reggio Calabria