Welcome

2008 Golden Helix Symposium

"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:

Venue

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.

Speakers

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