Scientific Program

17:45Welcome Reception

08:30-10:15Session 1: Introduction - Genetics 101
Chairs: Simon Fishel, UK; Yuval Yaron, Israel; Antoni Borrell, Spain
Simon Fishel, UK and Antoni Borrell, Spain
08:45-09:15Basic genetic principles for the non-geneticist
Yuval Yaron, Israel
09:15-09:45Update on Laboratories Technologies
Vincenzo Cirigliano, Spain
09:45-10:15The origin of aneuploidy
Eugene Pergament, USA
10:15-10:45Coffee Break and Poster Viewing
10:45-11:45Session 2: Preimplantation Genetic Diagnosis (PGD)
Chairs: Darren Griffin, UK and Attila Vereczkey, Hungary
10:45-11:15Concurrent single gene disorder and aneuploidy screening without whole genome amplification
Rebekah Zimmerman, USA
11:15-11:45Mosaicism in human embryos: Etiology and pregnancy outcome
Santiago Munne, USA
11:45-12:00Technical Break
12:00-13:30Industry-Sponsored Symposium
13:30-14:00Lunch Break
14:00-15:30Session 3: Introduction to Preimplantation genetic screening (PGS)
Chairs: Joshua Blazek, USA and Ariel Hourvitz, Israel
14:00-14:30Making sense of PGS: EBM, RCTs, mosaicism and reconciling the two sides
Darren Griffin, UK
14:30-15:00Results of the Virtual Academy of Genetics (VAoGEN) questionnaire on mosaicism in PGS
Ariel Weissman, Israel
15:00-15:30Evidence based scoring system for prioritizing mosaic aneuploid embryos for transfer
Francesca Grati, Italy
15:30-16:00Coffee Break and Poster Viewing
16:00-16:30Session 4: Preimplantation genetic screening (PGS)
Chair: Zvi Appelman, Israel
16:00-16:30Rapid genomic screening of embryos using Nanopore sequencing
Dan Turner, UK
16:30-18:00Session 5: Debate on PGS Technology: Targeted vs. Whole genome approach
Chair: Alan Handyside, UK
 16:30-18:00Targeted NGS - Nathan Treff, USA
qPCR - Antonio Capalbo, Italy
aCGH - Joshua Blazek, USA
NGS - Francesco Fiorentino, Italy

08:30-10:00Session 6: New Genetic Technologies
Chairs: Antoni Borrell, Spain and Eugene Pergament, USA
08:30-09:00The importance of cell-free fetal DNA (cffDNA) pre-test counseling: an overview and 3 years of implementation experience in teaching university hospital
Vedran Stefanovic, Finland
09:00-09:30Expanded Carrier Screening - Optimizing Panel Design
James Goldberg, USA
09:30-10:00Genome Editing Optimizations: Implications for Pre- and Post-Implantation Genetics
Gerald Schatten, USA
10:00-10:30Coffee Break & Poster Viewing
10:30-12:00Session 7: Prenatal diagnosis
Chair: Francesca Grati, Italy
10:30-11:00Prenatal application of whole exome sequencing (WES)
Mark Kilby, UK
11:00-11:30Counseling issues for fetal whole exome sequencing (WES)
Mark Kilby, UK
11:30-12:00Lessons learned from postnatal diagnostics: phenotype-driven penetrance analysis in the assignment of disease liability of genetic variants
Milan Macek, Czech Republic
12:00-13:15Session 8: Prenatal diagnosis – non-invasive prenatal screening (NIPS)
Chairs: Antoni Borrell, Spain and Vincenzo Cirigliano, Spain
12:00-12:25Noninvasive Prenatal Diagnosis (NIPD) for single-gene disorders
Fiona McKay, UK
12:25-12:50Cell based non-invasive prenatal screening
Ripudaman Singh, Denmark
12:50-13:15Noninvasive Prenatal Screening (NIPS) for microdeletions; an update
Peter Benn, UK
13:15-14:00Lunch Break
14:00-15:45Session 9: Prenatal diagnosis
Chairs: Peter Benn, UK and Howard Cuckle, Israel
14:00-14:25What is known about the health of Children Born after PGD/PGS –evidence from research
Alastair Sutcliffe, UK
14:25-14:50Genetic workup of recurrent miscarriages
The-Hung Bui, Sweden
14:50-15:15A comprehensive new paradigm for Prenatal Diagnosis
Antoni Borrell, Spain
15:15-15:45Best Practice for Prenatal Genomics
Javier Garcia-Planells, Spain
15:45-16:15Coffee Break & Poster Viewing
16:15-17:05Session 10: Genetics in reproduction
Chairs: Simon Fishel, UK and Yuval Yaron, Israel
16:15-16:40Genetics of primary ovarian insufficiency
Micheline Misrahi, France
16:40-17:05Experiences with laboratory implementation of a microarray based cell-free DNA testing system
Francesca Grati, Italy
17:05-17:20Closing remarks
Yuval Yaron, Israel

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