“Copy Number Variation and genomic alterations in health and disease”
DIVANI Caravel hotel, 28-29 November 2008, Athens, Greece
We are very pleased to welcome you to the 2008 Golden Helix Symposium on Copy Number Variation and Genomic Alterations in Health andDisease in the Divani Caravel Hotel, Athens, Greece.Chromosome analysis remains one of the most commonly performed diagnostic genetic tests. Microarray-based comparative genomic hybridization (array-CGH) allows analysis of the genome at a signi_cantly higher resolution than previously possible. The 2008 Golden Helix Symposium on ‘Copy number variation and genomic alterations in health and includes lectures by more than 20 international leading scientists in the field and covers all aspects of this exciting new field, from technologies and population genomics, through chromosomal and other disorders, to validation and development of a uniform array-CGH design.
We sincerely hope that this meeting will meet your expectations and set a precedent for future high-standard symposia in this and other disciplines in the field of human genomics and personalized medicine.
The 2008 Golden Helix Symposium Oranizing Committee
Organized by:
Unnder the auspices of:
Welcome
Venue
Speakers
Scientific Program
Sponsors
Gallery
“Copy Number Variation and genomic alterations in health and disease”
DIVANI Caravel hotel, 28-29 November 2008, Athens, Greece
We are very pleased to welcome you to the 2008 Golden Helix Symposium on Copy Number Variation and Genomic Alterations in Health andDisease in the Divani Caravel Hotel, Athens, Greece.Chromosome analysis remains one of the most commonly performed diagnostic genetic tests. Microarray-based comparative genomic hybridization (array-CGH) allows analysis of the genome at a signi_cantly higher resolution than previously possible. The 2008 Golden Helix Symposium on ‘Copy number variation and genomic alterations in health and includes lectures by more than 20 international leading scientists in the field and covers all aspects of this exciting new field, from technologies and population genomics, through chromosomal and other disorders, to validation and development of a uniform array-CGH design.
We sincerely hope that this meeting will meet your expectations and set a precedent for future high-standard symposia in this and other disciplines in the field of human genomics and personalized medicine.
The 2008 Golden Helix Symposium Oranizing Committee
Organized by:
Unnder the auspices of:
2008 Golden Helix Symposium Venue
The venue of the 2008 Golden Helix Symposium is the DIVANI Caravel Hotel*****.
Divani Caravel Hotel is a member of the Leading Hotels of the World. This hotel offers luxury and style in the heart of Athens. Ideally located just minutes away from Constitution square, just a short walk from the fashionable Kolonaki district with its boutiques, famous cafs and restaurants, as well as from all major cultural points such as museums, galleries, theatres, this 5* luxury hotel in Athens is the ideal base from which to visit the key attractions of the beautiful historic city.
Organizing committee
George P. Patrinos; Erasmus University Medical Center, Department of Cell Biology and Genetics, Rotterdam, the Netherlands
Michael B. Petersen; Institute of Child Health, Athens, Greece
Invited Speakers
Stylianos E. Antonarakis (Geneva, CH)
H. Peter Arnold (Eberfing, DE)
Cedric Le Caignec (Nantes, FR)
John A. Crolla (Salisbury, UK)
Emmanouil T. Dermitzakis (Cambridge, UK)
Xavier Estivill (Barcelona, ES)
Heike Fiegler (West Sussex, UK)
Jochen B. Geigl (Graz, AT)
Sakari Knuutila (Helsinki, FI)
Shane McCarthy (Cold Spring Harbor, NY, USA)
Philippos C. Patsalis (Nicosia, CY)
Luis Perez-Jurado (Barcelona, ES)
Alan Polten (Santa Clara, CA, USA)
Richard Redon (Cambridge, UK)
Corrado Romano (Troina, IT)
Jacqueline Schoumans (Stockholm, SE)
Michael Speicher, (Graz, AT)
Pawel Stankiewicz, (Houston, TX, USA)
Holger Tonnies (Kiel, DE)
Lisenka Vissers (Nijmegen, NL)
Bert B. de Vries (Nijmegen, NL)
Joris Vermeesch (Leuven, BE)
Joris Veltman (Nijmegen, NL)
Bauke Ylstra (Amsterdam, NL)
Marcella Zollino (Rome, IT)
Orsetta Zuffardi (Pavia, IT)
Scientific Program
Day 1 – Friday, November 28, 2008
08:00-09:00 Registration
09:00-09:20 Welcome addresses
Session 1 Techniques, Chairperson: George P Patrinos (Rotterdam, NL)
09:20-09:40 Michael Speicher, (Graz, AT)
Molecular cytogenetics
09:40-10:00 Bauke Ylstra (Amsterdam, NL)
Stratification by DNA microarrays in oncology: From technique to therapeutic target
10:00-10:20 Joris Veltman (Nijmegen, NL)
Diagnostic genome profiling by Single Nucleotide Polymorphism (SNP) arrays
10:20-10:40 Philippos C. Patsalis (Nicosia, CY)
X chromosome-specific microarrays for targeted locus copy number assessment
Company Lecture (Agilent)
10:40-11:10 Alan Polten (Santa Clara, CA, USA)
Introducing a new high resolution array-CGH platform for CNV detection and discovery: A brief update on technology and applications
COFFEE BREAK
Session 2 – Chromosomal Disorders, Chairperson: Michael B Petersen (Athens, GR)
11:30-11:50 Luis Perez-Jurado (Barcelona, ES)
Copy Number Variation: cause and susceptibility factor for recurrent genomic disorders
11:50-12:10 Pawel Stankiewicz, (Houston, TX, USA)
Copy Number Variation in mental retardation: The Baylor experience
12:10-12:30 Orsetta Zuffardi (Pavia, IT)
Array-CGH in visible chromosome rearrangements
12:30-12:50 Sakari Knuutila (Helsinki, FI)
Gene copy number alterations in human malignancies
12:50-13:10 Corrado Romano (Troina, IT)
Clinical profile of patients admitted to array-CGH analysis
13:10-13:30 Bert B. de Vries (Nijmegen, NL)
New syndromes detected by array-CGH
LUNCH BREAK
Session 3 – Other Disorders, Chairperson: Catherine Metaxotou (Athens, GR)
14:30-14:50 Lisenka Vissers (Nijmegen, NL)
Molecular karyotyping: linking gene dosage alterations to disease phenotypes
14:50-15:10 Shane McCarthy (Cold Spring Harbor, NY, USA)
Rare structural variants in schizophrenia
15:10-15:30 Xavier Estivill (Barcelona, ES)
Contribution of genomic structural variation to psoriasis susceptibility 3 of 5
Company Lecture (ROCHE-NimbleGen)
15:30-16:00 Heike Fiegler (West Sussex, UK)
Chromosomes in disarray
COFFEE BREAK
Session 4 – Population Genomics, Chairperson: Stylianos E Antonarakis (Geneva, CH)
16:20-16:40 Richard Redon (Cambridge, UK)
Copy number variation in the human genome
16:40-17:00 Joris Veltman (Nijmegen, NL)
Linking Copy Number Variation to subtle phenotypes in healthy individuals
17:00-17:20 Joris Vermeesch (Leuven, BE)
Mendelian Copy Number Variation
17:20-17:40 Emmanouil T. Dermitzakis (Cambridge, UK)
Copy Number Variation and gene expression
Keynote Lecture (Introduction: George P Patrinos, Rotterdam, NL)
17:45-18:30 Stylianos E. Antonarakis (Geneva, CH)
The Renaissance of Aneuploidy
WELCOME RECEPTION
EVENING, FORMAL DINNER (Lecturers and moderators: by invitation only)
EVENING FREE (Participants)
Day 2 – Saturday, November 29, 2008
Session 5 – Prenatal Diagnosis, Chairperson: Ariadne Mavrou (Athens, GR)
09:00-09:20 Cedric Le Caignec (Nantes, FR)
Genomic imbalances in fetuses with multiple malformations
09:20-09:40 Holger Tonnies (Kiel, DE)
Comparative Genomic Hybridization-based analyses of ancient DNA samples of malformed fetuses
09:40-10:00 Jochen B. Geigl (Graz, AT)
Array-CGH analysis of single cells
Company Lecture (Illumina)
10:00-10:30 H. Peter Arnold (Eberfing, DE)
Illumina SNP arrays: Expanding screening capabilities of cytogenetics laboratories
COFFEE BREAK
Session 6 – Quality Control, Chairperson: Emmanouil Kanavakis ( Athens, GR)
11:00-11:20 Marcella Zollino (Rome, IT)
Checklist of clinical signs to select patients for array-CGH and to validate the results
11:20-11:40 Jacqueline Schoumans (Stockholm, SE)
Validation of different platforms
11:40-12:00 John A. Crolla (Salisbury, UK)
Uniform and evidence based constitutional diagnostic oligonucleotide array-CGH: An International Consortium approach to design, implementation and interpretation
12:30-12:50: Closing remarks Future meeting
Meeting ends
Sponsors
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