SCIENTIFIC PROGRAMME

HOME » SCIENTIFIC INFO

SATURDAY, 4 JULY 2015

14:00 - 15:00 Room 12 - Permanent Working Group - Clinical and Molecular Approaches to Cytogenetic Syndromes
15:00 - 16:00 Room 12 - Permanent Working Group - Molecular Cytogenetics and Array-CGH
16:00 - 17:00 Room 12 - Permanent Working Group - Marker Chromosomes
   
14:00 - 15:00 Room Boston - Permanent Working Group - Cytogenetics of Haematological Malignancies
15:00 - 16:00 Room Boston - Permanent Working Group - Prenatal Diagnosis
16:00 - 17:00 Room Boston - Permanent Working Group - Animal, Plant and Comparative Cytogenetics
   
14:00 - 15:00 Room Dresden - CEQAS Participants' Meeting
15:00 - 16:00 Room Dresden - Permanent Working Group - Quality Issues and Training in Cytogenetics
16:00 - 17:00 Room Dresden - International Breakpoint Mapping Consortium, Ancillary Meeting
   
14:00 - 15:00 Room Leicester - Permanent Working Group - Cancer Cytogenetics, Solid Tumor Studies
15:00 - 16:00 Room Leicester - Permanent Working Group - Cytogenetics, Toxicology and Mutagenesis
16:00 - 17:00 Room Leicester - Permanent Working Group - Meiotic Studies
   
17:00 - 17:50 Industry-sponsored Satellite Symposium
18:00 - 19:00
Opening Lecture  
Chairs: José M. Garcia-Sagredo, Damien Sanlaville
 
Aneuploidy in humans: new insights into an age-old problem
Terry Hassold (USA) 
   
   

SUNDAY, 5 JULY 2015

08:30 - 10:30
Plenary session: Clinical Cytogenetics
Chairs: Elisabeth Syk Lundberg, Kamlesh Madan

08:30 - 09:05
CNV on the X Chromosome. Clinical interpretation and pitfalls
Damien Sanlaville (F)
09:05 - 09:40
Can Down syndrome be treated?
Renaud Touraine (F)
09:40 - 10:30
Selected Oral Presentations
Detecting small Copy Number Variations, smaller than 400 kb, improves the diagnostic yield of CMA in intellectual disability
Marie Faoucher (F) 
The power of social media for karyotype-phenotype analysis of rare chromosome disorders
Conny van Ravenswaaij-Arts (NL)
Reorganisation of chromosome 9 pericentromeric segmental duplications in inv(9) carriers and in evolution
Stefan Müller (D)


10:30 - 11:00  Coffee Break


11:00 - 12:00
Plenary session: 150 Years Since Mendel's Laws (Brno, Natural History Society 1865, published 1866)
Chairs: Pat Heslop-Harrison, Mariano Rocchi

11:00 - 11:30 Mendel, his time, and the rediscovery of his laws
Trude Schwarzacher (GB)
11:30 - 12:00 From genetic to epigenetic inheritance
Marcus Pembrey (GB)


12:00 - 14:40 Poster Session 


12:40 - 13:30  Industry-sponsored Satellite Symposium
13:40 - 14:30 Industry-sponsored Satellite Symposium


14:40 - 15:45
Concurrent Session: Chromosomal Rearrangements I
Chairs: Orsetta Zuffardi, Damien Sanlaville

14:40 - 15:05
Engineering human tumour-associated chromosomal translocations with the RNA-guided CRISPR-Cas9 system
Sandra Rodriguez Perales (E)
15:05 - 15:30 
Genome rearrangements in hereditary disorders
Karl Heinimann (CH)
15:30 - 15:45
Selected Oral Presentation
Unraveling the internal structure of neocentromeres in ring chromosomes harboring genomic amplification in soft tissue tumors.
Gemma Macchia (I)


14:40 - 15:45
Concurrent Session: Segmental Duplications and Copy Number Variants I
Chairs: Joris Vermeesch, Serge Romana

14:40 - 15:05
Salivary amylase CNV and obesity
Philippe Froguel (GB)
15:05 - 15:30
Polymorphism of the pseudoautosomal region I
Martin A. Mensah (D)
15:30 - 15:45 
Selected Oral Presentation 
Unbalanced de novo chromosome translocations and inversions: a two-step origin?
Maria Clara Bonaglia (I)


15:45 - 16:15 Coffee Break


16:15 - 17:20
Concurrent Session: Fragile Sites and Chromosome Instability
Chairs: Lidia Larizza, Jean-Michel Dupont

16:15 - 16:40
Fragile X Syndrome: an overview
Jean-Louis Mandel (F)
16:40 - 17:05
CINister problems, modeling aneuploidy in the mouse
Floris Foijer (NL)
17:05 - 17:20
Selected Oral Presentation
The International Breakpoint Mapping Consortium (IBMC). Systematic mapping of chromosomal breakpoints in the context of phenotypes and nuclear genome organization.
Niels Tommerup (DK)


16:15-17:20
Concurrent Session: Segmental Duplications and Copy Number Variants II
Chairs: Nicole de Leeuw, Juan Cigudosa

16:15 - 16:40
The growing importance of CNVs: new insights for detection and clinical interpretation
Sebastien Jacquemont (CDN)
16:40 - 17:05
Copy number variation as a key to unlocking the enigma that is schizophrenia
Aiden Corvin (IRL)
17:05 - 17:20
Selected Oral Presentation
Direct visualisation of complex structural and copy-number variation by molecular combing and multicolour-FISH.
Fengtang Yang (GB)


17:20 - 18:30 Poster Session
17:30 - 18:20  Industry-sponsored Satellite Symposium  
18:30  E.C.A. General Assembly


   

MONDAY, 6 JULY 2015

08:30 - 10:30
Plenary session: Tumor cytogenetics I
Chairs: Felix Mitelman, Claudia Haferlach  

08:30 - 09:00
Molecular breakdown of AML with EVI1
Ruud Delwel (NL)
09:00 - 09:30
Myelodysplastic syndromes: from 5q- to somatic mutation of RNA splicing machinery
Mario Cazzola (I)
09:30 - 10:30 
Selected Oral Presentations
Comparison of microarray-based genomic profiling and karyotyping in myelodysplastic syndromes (a HOVON89 study).
Marian Stevens-Kroef (NL)
Epigenetic regulation of UNCX, a novel homeobox transcription factor gene activated in acute myeloid leukemia. 
Giulia Daniele (I)
Rapid and comprehensive routine diagnostic approach for prognostic genetic markers in multiple myeloma. 
Elodie David (CH)


10:30 - 11:00 Coffee Break


11:00 - 12:15
Concurrent Session: Chromosomal Rearrangements II
Chairs: Nicole de Leeuw, Franck Pellestor  

11:00 - 11:30 
Retrotransposable elements, unbalanced translocations and chimerism
Joris Vermeesch (B) 
11:30 - 12:00
SD, CNV and complex regions of the human genome
Francesca Antonacci (I) 
12:00 - 12:15
Selected Oral Presentation
Meiotic recombination and complex chromosome rearrangements: how whole-genome sequencing helps to resolve them.
Vincent Gatinois (F)


11:00-12:15
Concurrent Session: Animal and Plant Cytogenetics
Chairs: Pat Heslop Harrison, Valerie Fillon

11:00 - 11:30 
Chromosome-centric approaches unravel the impact of polyploidization and interspecific hybridization
Jaroslav Dolezel (CZ)
11:30 - 12:00
Functional organization of satellite-less equid centromeres
Elena Giulotto (I)
12:00 - 12:15
Selected Oral Presentation 
Comparative chromosome painting in lacertid lizards: highly conserved karyotypes but independent origins of sex chromosomes
Veronica Rojo (E)
 


12:15 - 14:30 Poster Session


12:40 - 13:30 Industry-sponsored Satellite Symposium
13:40 - 14:30 Industry-sponsored Satellite Symposium


14:30 - 15:45
Plenary session: Impact of Whole Genome Sequencing on Future Diagnostics 
Chairs: Eva Klopocki, Juan Cigudosa 

14:30 - 15:00
NGS and cytogenetics
Joris Veltman (NL)
15:00 - 15:30 
Genetic diagnosis in malignant hemopathies 
Claudia Haferlach (D)
15:30 - 15:45 
Selected Oral Presentation
Exome sequencing and SNP arrays as a tool to describe genetic diversity of premalignant and malignant cells: lesson from monoclonal gammopathies. 
Aneta Mikulasova (CZ)


15:45 - 16:15 Coffee Break


16:15 - 17:30
Concurrent Session: Tumor Cytogenetics II
Chairs: Roberta Vanni, Thierry Lavabre-Bertrand 

16:15 - 16:45
Constitutional and somatic rearrangement of chromosome 21 in ALL
Christine J. Harrison (GB)
16:45 - 17:15
Developmental disease and cancer: Biological and Clinical Overlaps
Alfonso Bellacosa (USA) 
17:15 - 17:30
Selected Oral Presentation
Assessment of SNP genomic microarray analysis as an alternative to FISH analysis for the detection of copy number changes in pediatric solid tumors. 
Mary Shago (CDN)


16:15 - 17:30
Concurrent Session: Accreditation and Quality Control
Chairs: Harald Rieder, Martine Doco-Fency  

16:15 - 16:40
European Standards for Clinical Laboratory Geneticists
Thomas Liehr (D)
16:40 - 17:00 
Changes in ISO 15189: practical implications
Konstantin Miller (D) 
17:00 - 17:30 
Mandatory 15189 ISO accreditation for French medical laboratories: how to best reconcile regulatory and normative requirements for cytogenetics?
Philippe Lochu (F) 


17:30 - 18:30  Poster Session
17:30 - 18:20 Industry-sponsored Satellite Symposium


TUESDAY, 7 JULY 2015

09:00-10:30
Plenary session: Prenatal Diagnosis
Chairs: Konstantin Miller, Sevilhan Artan  

09:00 - 09:25
The Positive Predictive Value of Noninvasive Prenatal Screening (NIPS)
Charles Strom (USA) 
09:25 - 09:50
Prenatal technologies and sex ratio
Kamlesh Madan (NL) 
 
09:50 - 10:30
Selected Oral Presentation 
Noninvasive prenatal testing: more caution is needed in high risk pregnancies 
Beatrice Oneda (CH)
Digital PCR in an efficient alternative to massively parallel sequencing as a non-invasie, prenatal test for trisomy 21: the results of a pilot study.
Laila Allach El Khattabi (F)




10:30 - 10:50 Coffee Break


10:50 - 11:40 Industry-sponsored Satellite Symposium
   
11:50 - 12:20
Keynote Lecture
Chairs: Mariano Rocchi, José M. Garcia-Sagredo  
 
The chromosome 22q11.2 rearrangement disorders
Bernice E. Morrow (USA) 

12:20 
Closing Ceremony
Chairs: José M. Garcia-Sagredo , Damien Sanlaville