To DNA and beyond

17th of March 2023, DÔME, Charleroi, Belgium

'Short' program 23rd Annual meeting 2023 (poster)

Topic: To DNA and Beyond. (full program belowOral abstractsPoster abstracts)

Full abstract book

Friday 17th of March 2023
9:00-9:25 Registration

9:25-9:30 Welcome

9:30-11:00 PLENARY SESSION 1: Sex Determination

  • Yann Guiguen - Diversity and evolution of genetic sex-determination in fish ()
  • Jana Henck - Single cell, whole embryo phenotyping of pleiotropic disorders of mammalian development ()
  • Kristof Van Assche - Early surgical interventions on intersex children: Legal considerations and the human rights debate ()

11:00-11:30 Coffee break / Meet the sponsors / Poster viewing
11:30-12:45 Selected oral presentations

  • Parallel session 1
  • Parallel session 2

12:45-14:00 Lunch break / Meet the sponsors / Poster viewing
14:00-15:15 Selected oral presentations

  • Parallel session 3
  • Parallel session 4

15:15-15:45 Coffee break / Meet the sponsors / Poster viewing
15:45-16:15 General assembly
16:15-17:15 PLENARY SESSION 2: Methylation

  • Deborah Mackay - It takes two: genetics and epigenetics of imprinting disorders ()
  • Ulrich Zechner - Derepression of imprinted gene alleles as a new approach to treat imprinting disorders ()

17:15-17:30 Closing remarks and best poster / oral presentation awards

17:30-23:00 Reception and party

FULL Program - Annual Meeting 2023 - 17th of March

  • 09:00 - 09:25

    Main entrance

    Registration

    Breakfast is included

  • 09:25 - 09:30

    Parquet

    Welcome

    Gert Matthijs

  • 09:30 - 11:00: Plenary Session I - Chairs: TBD

  • 09:30 - 10:00

    Parquet

    Diversity and evolution of genetic sex-determination in fish.

    Yann Guiguen

  • 10:00 - 10:30

    Parquet

    Single cell, whole embryo phenotyping of pleiotropic disorders of mammalian development.

    Jana Henck

  • 10:30 - 11:00

    Parquet

    Early surgical interventions on intersex children: Legal considerations and the human rights debate.

    Kristof Van Assche

  • 11:00 - 11:30: Coffee break, poster session and meet the sponsors (Expo Hall)

  • 11:30 - 12:45: Selected Oral Presentations - Parallel Sessions I - Chairs: TBD

  • 11:30 - 11:45

    Parquet

    Diamond: Use of PARP inhibitor in early breast cancer as adjuvant therapy: new indication for BRCA1 and BRCA2 testing.

    David Schröder

  • 11:45 - 12:00

    Parquet

    Multivariate GWAS on achondroplasia-like craniofacial shape variation in healthy human individuals

    Michiel Vanneste

  • 12:00 - 12:15

    Parquet

    The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture

    Michiel Vanhooydonck

  • 12:15 - 12:30

    Parquet

    Preimplantation genetic testing (PGT) in Belgium: national recommendations for genetic centers

    Machteld Baetens

  • 12:30 - 12:45

    Parquet

    BabyDetect project: molecular newborn screening in Belgium

    Kristine Hovhannesyan

  • 11:30 - 12:45: Selected Oral Presentations - Parallel Session II - Chairs: TBD

  • 11:30 - 11:45

    Le Château

    The pseudoxanthoma elasticum zebrafish model contributes to novel pathophysiological insights and therapeutic strategies in ectopic mineralization

    Lisa Dangreau

  • 11:45 - 12:00

    Le Château

    Retained chromosomal integrity following CRISPR/Cas9-based mutational correction in human embryos

    Bieke Bekaert

  • 12:00 - 12:15

    Le Château

    Striking phenotypical differences between Ipo8 knock-out mouse models on different genetic backgrounds explored by RNA sequencing

    Lucia Buccioli

  • 12:15 - 12:30

    Le Château

    WES advances a genetic diagnosis in patients with differences of sex development and corroborates the role of RXFP2 in autosomal recessive bilateral cryptorchidism and infertility

    Hannes Syryn

  • 12:30 - 12:45

    TBD

    Malfunctional CTDP1 impairs the cell cycle implying its crucial role in brain development

    Hamide Yildirim

  • 12:45 - 14:00: Lunch break - Meet the sponsors and visit posters (TBD)

  • 14:00 - 15:15: Selected Oral Presentations - Parallel Sessions III - Chairs: TBD

  • 14:00 - 14:15

    Parquet

    Multiple recombination mechanisms drive the high incidence of 22q11.2 Deletion Syndrome

    Senne Meynants

  • 14:00 - 14:15

    Parquet

    CGG Short Tandem Repeat Expansions are Overrepresented in Neurodevelopmental Disorders

    Dale Annear

  • 14:15 - 14:30

    Parquet

    Kyphoscoliotic Ehlers-Danlos syndrome due to pathogenic variants in PLOD1 and FKBP14: further insights into the pathophysiology and comparison of clinical characteristics.

    Marlies Colman

  • 14:30 - 14:45

    Parquet

    Single-cell dissection of cervix and placenta reveal both novel and overlapping cell types

    Margot van Riel

  • 14:45 - 15:00

    Parquet

    To test or not to test: the importance of genetics in the diagnostic workup of cerebral palsy

    Liene Thys

  • 14:00 - 15:15: Selected Oral Presentations - Parallel Sessions IV - Chairs: TBD

  • 14:00 - 14:15

    Le Château

    Diamond: TBD

    TBD

  • 14:15 - 14:30

    Le Château

    Whole genome sequencing sheds light on the dark matter of the genome in patients with inherited retinal diseases

    Miriam Bauwens

  • 14:30 - 14:45

    Le Château

    Differential alternative splicing analysis links variation in ZRSR2 to a novel oral-facial-digital syndrome

    Laurens Hannes

  • 14:45 - 15:00

    Le Château

    An in vitro enzymatic assay to elucidate the VUS problem in RPE65, a target for retinal gene therapy

    Eline Van Vooren

  • 15:00 - 15:15

    Le Château

    Sample Catalog: A Federated Platform for Identification and sharing of biological samples in rare disorders

    Benjamin Huremagic

  • 15:15 - 15:45: Coffee/Tea break - Meet the sponsors and visit posters (TBD)

  • 15:45 - 16:15: General assembly (TBD)

  • 16:15 - 17:30: Plenary Session II - Chairs: TBD

  • 16:15 - 16:45

    Parquet

    It takes two: genetics and epigenetics of imprinting disorders.

    Deborah Mackay

  • 16:45 - 17:15

    Parquet

    Derepression of imprinted gene alleles as a new approach to treat imprinting disorders.

    Ulrich Zechner

  • 17:15 - 17:30: Closing remarks + AWARDS (TBD)

  • 17:30 - 23:00: RECEPTION & Party (TBD)