SCIENTIFIC PROGRAMME

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SATURDAY, 1 July 2017

14:00-17:00 Permanent Working Groups
PLEASE CLICK HERE FOR THE DETAILED PROGRAMME OF THE PWG'S
17:00-18:00 Opening lecture. Chairs: Elisabeth Syk Lundberg - Lidia Larizza
Dennis Lo: Chromosomes to circulating DNA

 

SUNDAY, 2 July 2017

08:30-10:25 Plenary session 1 - Chromosomal Imbalances and Rearrangements
Chairs: Orsetta Zuffardi - Damien Sanlaville
08:30-09:05 Michael Talkowski: Chromosomal rearrangements and sequencing
09:05-09:40 Wigard Kloosterman: Nanopore sequencing of human genomes reveals insight into chromothripsis complexity
09:40-10:25 Selected abstracts
Caroline Schluth-Bolard: Unravelling structural chromosomal rearrangements by whole genome sequencing: results of the ANI project
Ivan Iourov: Chromothripsis as a mechanism driving genomic instability mediating brain diseases
Anna Lindstrand: Whole genome characterization of array defined clustered CNVs reveals two distinct complex rearrangement subclasses generated through either non-homologous repair or template switching
10:25-11:00 Coffee break
11:00-12:00 Plenary session 2: 100 Years ago: T. C. Hsu and Mammalian Cytogenetics
Chairs: Mariano Rocchi - Vladimir Trivonof
11:00-11:30 Malcolm Ferguson-Smith: Chromosome sequencing: the fifth and final era of cytogenetics
11:30-12:00 Pat Heslop-Harrison: Comparative cytogenomics
12:00-14:40 Poster session
12:00-12:50 Industry-sponsored Satellite Symposia
14:40 - 15:45 Concurrent Sessions
Concurrent Session 1 - Genome Plasticity
Chairs: Evan Eichler - Mariano Rocchi
14:40-15:05 Mario Ventura: Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region
15:05-15:30 Scott E. Devine: L1 retrotransposons can evade somatic repression and initiate tumorigenesis in normal human colon tissues
15:30-15:45 Selected Abstract
Sandra Louzada: Defining haplotypes of complex structural variation using multicolour fibre-FISH: amylase CNV study
Concurrent Session 2 - Clinical Cytogenetics
Chairs: Albert Schinzel - Sabrina Giglio
14:40-15:05 Orsetta Zuffardi: A fil rouge links numerical to structural chromosome abnormalities via chromothripsis
15:05-15:30 Guy Froyen: Intellectual disability in female patients with a skewed X-inactivation pattern
15:30-15:45 Selected Abstract
Mariana Moyses-Oliveira: Balanced X-autosome translocation suggests association of AMMECR1 disruption with hearing loss and growth, bone and heart alterations
15:45-16:15 Coffee break
16:15-17:20 Concurrent Sessions
Concurrent Session 3 - CRISPR-Cas9
Chairs: Nicole de Leeuw - Juan Cigudosa
16:15-16:40 Giovanni Perini: The CRISPR/Cas9 world
16:40-17:05 Nissim Benvenisty: Human haploid embryonic stem cells: Derivation and application in editing the human chromosomes
17:05-17:20 Selected Abstract
Isabell Pechtl: Monitoring guide RNA synthesis for CRISPR-Cas9 genome editing workflow
Concurrent Session 4 - Chromatin Organization and Dynamics
Chairs: Lidia Larizza - Thomas Cremer
16:15-16:40 Stefan Mundlos: Chromatin domains and diseases
16:40-17:05 Maria Pia Cosma: The nanoscale structure of chromatin fibers correlates with cellular state
17:05-17:20 Selected Abstract
Mireia Solé: Chromosome territories in mice spermatogenesis: a new three-dimensional methodology
17:20-18:30 Poster session
20:00 Conference Dinner 20 Years of E.C.A.

 

MONDAY, 3 July 2017

08:30-10:30 Plenary session 3 - Tumor Cytogenetics I
Chairs: Felix Mitelman - Claudia Haferlach
08:30-09:00 Peter Lichter: Mechanistic aspects of chromothripsis
09:00-09:30 Francesco Lo-Coco: Acute promyelocytic leukemia: from genetics to therapy
09:30-10:30 Selected Abstracts
David Gisselsson: A geography of clones: mapping the tumour genome over anatomic space in children with cancer
Emanuela Maserati:Novel recurrent chromosome anomalies in Shwachman- Diamond syndrome
Nicole Chia: Deletion 13q characterised by SNP microarray profiling of a large cohort of CLL patients
Gemma Macchia: The transcriptome plasticity of genome amplification in cancer
10:30-11:00 Coffee break
11:00-12:15 Concurrent Sessions
Concurrent Session 5 - Tumor Cytogenetics II
Chairs: Roberta Vanni - Thierry Lavabre Bertrand
11:00-11:30 Ellen Heitzer: Circulating tumor DNA as a liquid biopsy for cancer
11:30-12:00 Vassiliou George: Ageing and leukemogenesis
12:00-12:15 Selected Abstract
Karin Nebral: Prospective diagnostic evaluation of genetic abnormalities in childhood acute lymphoblastic leukemia with hub gene FISH screening and array analyses
Concurrent Session 6 - Animal and Plant Cytogenetics
Chairs: Pat Heslop-Harrison - Roscoe Stanyon
11:00-11:30 Vladimir Trivonof: Whole genome duplications in vertebrate evolution
11:30-12:00 Martin Lysak: Reconstruction of ancestral karyotypes and identification of chromosome evolution
12:00-12:15 Selected Abstract
Giorgia Chiatante: Apparently identical heterozygous neocentromeres in two closely related Cercopithecini species
12:15-14:30 Poster session
12:15-13:05 Industry-sponsored Satellite Symposia
14:30-15:45 Plenary session 4 - Meiosis and Non-Disjunction
Chairs: Harald Rieder - Trude Schwarzacher
14:30-15:00 Agata Zielinska: The untimely separation of chromosomes and kinetochores in human oocytes may explain the maternal age effect
15:00-15:30 Eva Hoffmann: Meiosis and chromosome segregation
15:30-15:45 Selected Abstract
Joy Delhanty: Meiotic outcome in two carriers of Y autosome reciprocal translocations: selective elimination of certain segregants
15:45-16:15 Coffee break
16:15-17:15 Concurrent Sessions
Concurrent Session 7 - Epigenetics
Chairs: Joris Vermeesch - Orsetta Zuffardi
16:15-16:45 Andrew Sharp: Epimutations as a novel cause of congenital disorders
16:45-17:15 Yuri Dubrova: Transgenerational epigenetics effects
17:15-17:30 Selected Abstract
Neus Baena: Deletion encompassing DLK1 gene at 14q32 imprinted region in two new Temple syndrome cases
Concurrent Session 8 - Accreditation and Quality Control
Chairs: Konstantin Miller - Jose Garcia Sagredo
16:15-16:45 Harald Rieder: Ten years external quality assessment in leukemia cytogenetics in Germany - what did we learn?
16:45-17:15 Martine Doco-Fenzy: External quality assessment in constitutionnal array-CGH and consequences for routine practice, the French experience
17:15-17:30 Selected Abstract
Ros Hastings: External Quality Assessment of clinical genetics: experiences with the pilot assessments
17:30-18:30 Poster session
18:30 E.C.A. General Assembly

 

TUESDAY, 4 July 2017

09:00-10:30 Plenary session 5 - Prenatal Diagnosis
Chairs: The-Hung Bui - Jean-Michel Dupont
09:00-09:25 Mark I Evans: Noninvasive prenatal screening or advanced diagnostic testing: caveat emptor
09:25-09:50 Vincenzo Cirigliano: Performance evaluation and first clinical application of a new paired-end sequencing MPSS approach for cfDNA screening of common aneuploidies
09:50-10:15 Raoul Orvieto: Should preimplantation genetic screening (PGS) be implemented to routine IVF practice?
10:15-10:30 Selected Abstract
Kris Van Den Bogaert: The majority of uncommon chromosomal imbalances detected by NIPT are postzygotic (feto)placental mosaics
10:30-10.50 Coffee break
10:50-11:20 Keynote lecture. Chairs: Mariano Rocchi - Elisabeth Syk-Lundberg
Evan E. Eichler: Duplication, structure and the evolution of the human genome
11:20 Closing ceremony. Elisabeth Syk Lundberg - Orsetta Zuffardi