Belgian Society for Human Genetics


18th annual BeSHG meeting: The epigenome in development and disease

ICC, Ghent

Friday, 16 february 2018

abstract book       poster      

08.30-09.00 Registrationcoffee & pastries (Hall)
09.05-09.15 Opening remarksPaul Coucke(Auditorium 1)
09.15-10.45Morning sessionchair: Elfride De Baere & Paul Coucke(Auditorium 1)
Silvere van der MaarelGenetic and epigenetic regulation of repetitive DNA in relation to disease
José Luis Gomez-SkarmetaEvolution of Regulatory Landscapes
10.45-11.15 Coffee break (Hall)
11.15-12.15 Parallel Session: Selected abstracts I - Clinical and functional geneticschair: Thomy De Ravel & Olivier Vanakker (Auditorium 1)
Eva D'haeneThe MEF2C regulatory network is disrupted in patients with Rett-like characteristics
Laura VandervoreRotatin mutations impair bipolar mitotic spindle formation leading to a wide spectrum of brain malformations
Eline BlommaertThe odyssey of MAGT1: from magnesium channel back to N-glycosylation?
Guillaume DachyPDGFRB mutations in sporadic myofibromatosis
11.15-12.15 Parallel Session: Selected abstracts II - Laboratory Geneticschair: Cécile Libioulle & Kathleen Claes (Auditorium 2)
Elia Fernandez GallardoParallel single cell genome and transcriptome sequencing to study the genomic instability during human embryonic preimplantation development
Heleen MassetHaplotyping and copy-number profiling of single cells by massive parallel sequencing
Annekatrien BoelCRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish: not an error-free process
Sarah NaessensAntisense oligonucleotide-based splice correction of two neighboring deep- intronic ABCA4 mutations causing Stargardt disease
12.15-13.45 Lunch + poster viewing + sponsor support(Hall)
12.15-13.00 Annual General Assembly BeSHG(Auditorium 1)
13.45-14.45 Parallel Session: Selected abstracts III - Oncogeneticschair: Nisha Limaye & Nadine Van Roy (Auditorium 1)
Sebastiaan VanuytvenSingle-cell multi-omics sequencing to understand the nature, extent and biology of cellular heterogeneity in breast cancer
Eline NaertPARP inhibitor therapy for breast cancer patients: Olympiad clinical trial results and the impact of this new treatment option on the BRCA testing flow
Anirban Chakraborty Understanding the pathophysiology of Diamond-Blackfan anemia in zebrafish: Evidence of cross talk between TP53 and cMYC
Joe IbrahimGasdermin E Methylation as a Universal Epigenetic Biomarker for the Most Common Types of Cancer
13.45-14.45 Parallel Session: Selected abstracts IV - Bio-informatics and Functional Geneticschair: Lut Van Laer & Björn Menten (Auditorium 2)
Hanne ValgaerenLoss of the ASARM domain of MEPE causes a craniofacial bone defect, while loss of RGD and ASARM domains is associated with otosclerosis
Eva De Vilder The inflammasome pathway is involved in PXE through IL1B upregulation in patients with a severe cardiovascular PXE phenotype
Francisco Avila CobosZipper plot: visualizing transcriptional activity of genomic regions
Leonor PalmeiraHardware and Software Optimizations In Routine NIPT Diagnostics Running On HPC
14.45-15.15 Coffee break (Hall)
15.15-16.45 Afternoon sessionchair: Maryse Bonduelle & Frank Speleman (Auditorium 1)
15.15-16.00Denes HniszGene Dysregulation in Cancer: the View from Chromosome Neighborhoods
16.00-16.45Axel ViselThe Future of Medical Genetics: Solved Problems and Persisting Challenges
16.45-17.15 Prizes and Closing remarks
17.15-19.00 Reception (Hall)
19.00-23.00 Walking dinner and party (optional for registrants)


Gert Matthijs, President
Nisha Limaye, Secretary
Lut Van Laer, Treasurer