Downloads : poster, Abstract book;Abstracts oral presentations; Abstracts poster presentations)

Programme 

9h00-9h25: Registration
9h25-9h30: Welcome
9h30-11h00: PLENARY SESSION 1 : Sex Determination

• 9h30: Yann Guiguen : Diversity and evolution of genetic sex-determination in fish.
• 10h00: Jana Henck : Single cell, whole embryo phenotyping of pleiotropic disorders of mammalian development.
• 10h30: Kristof Van Assche : Early surgical interventions on intersex children: Legal considerations and the human rights debate.

11h00-11h30: Coffee break/Meet the sponsors/Poster viewing
11h30 – 12h45: Selected oral presentations
Parallel session 1 :

• 11h30: David Schröder : Diamond AstraZeneca: Use of PARP inhibitor in early breast cancer as adjuvant therapy: new indication for BRCA1 and BRCA2 testing.
• 11h45: Michiel Vanneste : Multivariate GWAS on achondroplasia-like craniofacial shape variation in healthy human individuals.
• 12h00: Michiel Vanhooydonck : The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture.
• 12h15: Machteld Baetens : Preimplantation genetic testing (PGT) in Belgium: national recommendations for genetic centers.
• 12h30: Kristine Hovhannesyan : BabyDetect project: molecular newborn screening in Belgium.

Parallel session 2 :

• 11h30: Lisa Dangreau :The pseudoxanthoma elasticum zebrafish model contributes to novel pathophysiological insights and therapeutic strategies in ectopic mineralization.
• 11h45: Bieke Bekaert : Retained chromosomal integrity following CRISPR/Cas9-based mutational correction in human embryos.
• 12h00: Lucia Buccioli : Striking phenotypical differences between Ipo8 knock-out mouse models on different genetic backgrounds explored by RNA sequencing.
• 12h15: Hannes Syryn : 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.
• 12h30: Hamide Yildirim : Malfunctional CTDP1 impairs the cell cycle implying its crucial role in brain development.

12h45-14h00: Lunch break and poster viewing
14h00-15h15: Selected oral presentations
Parallel session 3 :

• 14h00: Senne Meynants : Multiple recombination mechanisms drive the high incidence of 22q11.2 Deletion Syndrome.
• 14h15: Dale Annear : CGG Short Tandem Repeat Expansions are Overrepresented in Neurodevelopmental Disorders.
• 14h30: Marlies Colman : Kyphoscoliotic Ehlers-Danlos syndrome due to pathogenic variants in PLOD1 and FKBP14: further insights into the pathophysiology and comparison of clinical characteristics.
• 14h45: Margot van Riel : Single-cell dissection of cervix and placenta reveal both novel and overlapping cell types.
• 15h00: Liene Thys : To test or not to test: the importance of genetics in the diagnostic workup of cerebral palsy.

Parallel session 4 :

• 14h00: Richard Capper : Diamond Illumina: Advancements in Whole-Genome Sequencing – Achieving a complete and comprehensive genome at scale.
• 14h15: Miriam Bauwens : Whole genome sequencing sheds light on the dark matter of the genome in patients with inherited retinal diseases.
• 14h30: Laurens Hannes : Differential alternative splicing analysis links variation in ZRSR2 to a novel oral-facial-digital syndrome.
• 14h45: Eline Van Vooren : An in vitro enzymatic assay to elucidate the VUS problem in RPE65, a target for retinal gene therapy. 15h00: Benjamin Huremagic : Sample Catalog: A Federated Platform for Identification and sharing of biological samples in rare disorders.

15h15 – 15h45: Coffee break/Meet the sponsors/Poster viewing
15h45 – 16h15: General assembly
16h15 – 17h30: PLENARY SESSION 2 : Methylation

• 16h15: Deborah Mackay : It takes two: genetics and epigenetics of imprinting disorders.
• 16h45 : Ulrich Zechner : Derepression of imprinted gene alleles as a new approach to treat imprinting disorders.

17h15: Closing remarks and best poster / oral presentation awards
17h30 – 23h: Reception and party

Abstracts of the 2023 annual BeSHG meeting can be downloaded below:

Full abstract book

Oral Presentations

Poster presentations