Belgian Society for Human Genetics


20th annual BeSHG meeting: Genome for all?

The Square - Brussels Convention Center

Friday, 6 march 2020

poster - abstract book

Confirmed Invited Speakers:

Prof. Stylianos E. Antonarakis, University of Geneva, Switzerland

Dr. Adam Frankish, European Bioinformatics Institute, United Kingdom

Prof. Samuel Refetoff, The University of Chicago, USA

Prof. Bjarni V Halldórsson, deCODE genetics and Reykjavik University, Iceland

online meeting registration: 60 € (incl. membership 2020)
on-site registration: 60 €

08.00-09.00 Registrationcoffee(Grand Hall 1)
09.00-09.15Welcome and introduction by the President of the BeSHGGert Matthijs(Copper Hall)
09.15-10.30Morning session Ichair: Isabelle Vandernoot & Damien Lederer(Copper Hall)
09.15-09.45Stylianos E. AntonarakisThe search for high impact variants in the Population
09.45-10.00Diamond sponsor Avexis Lecture by François Boemer(S)un (M)ay (A)rise on SMA: the newborn screening experience in Southern Belgium
10.00-10.30 Annual General Assembly BeSHG
10.30-11.00 Coffee break, poster session and exhibition(Grand Hall 1)
11.00-13.00Morning session IIchair: Nisha Limaye & Guillaume Smits(Copper Hall)
11.00-11.30Adam FrankishCreating better gene annotation to support improvements in genetic diagnosis
11.30-12.30Selected oral presentations I chair: Nisha Limaye & Guillaume Smits (Copper Hall)
Yves MoreauA scoping review of forensic population genetics research in China: involvement of surveillance organizations and ethics of surveillance genomics
Lisanne VervoortLCR22q11.2 hypervariability is human specific
Stijn Van de SompeleWhole genome sequencing and 4C techniques provide novel insights into the genetic architecture and mechanisms underlying North Carolina macular dystrophy, a cis-regulatory disease
Malaïka Van Der LindenShallow whole-genome sequencing of cell-free DNA for B-cell lymphoma diagnosis and disease monitoring: a standardized approach with underappreciated potential
12.30-13.00 Flash presentations(Copper Hall)
13.00-14.15 Lunch, Poster Viewing, Exhibiton and Company Visits(Grand Hall 1)
14.15-15.15 Selected oral presentations IIachair: Julie Soblet & Chantal Depondt (Copper Hall)
Huiwen CheNon-invasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA
Lucia LorenziThe RNA Atlas, a single nucleotide resolution map of the human transcriptome
Alexandre RenauxDeciphering oligogenic diseases with ORVAL
Dale AnnearA Catalogue of the CGG Short-Tandem Repeats in the Human Genome
14.15-15.15 Selected oral presentations IIbchair: Kathelijn Keymolen & Saskia Bulk (Copper Foyer)
Silke PeetersThe role of FBN2 in Carpal Tunnel Syndrome: From Rare Disorder to Common Risk Factor?
Sarah DelbaereUnique trisaccharide proteoglycan linker region in b3galt6 knock-out zebrafish, recapitulating beta3GalT6-deficient disorders in human
Marjolein CarronFunctional characterization of a Xenopus tropicalis knockout and a human cellular model of RCBTB1-associated inherited retinal disease shows involvement of RCBTB1 in the cellular response to oxidative stress
Lore PottieMutations in LTBP1 cause autosomal recessive cutis laxa syndrome
15.15-15.45 Coffee break, poster session and exhibition (Grand Hall 1)
15.45-18.00 Afternoon Session IIIchair: Catheline Vilain & Bert Callewaert (Copper Hall)
15.45-16.15Samuel RefetoffTwo novel but unfinished genetic tales: 1. Transgenerational inheritance of an epigenetic effect in humans 2. The consequence of primate specific intergenic mutation
16.15-16.30Diamond Sponsor Illumina Lecture by: Tim Watts First Exomes, Now Genomes? The evolution for Rare Disease Diagnosis
16.30-16.45Diamond Sponsor AstraZeneca Lecture by: Jacques De GreveBRCA testing in ovarian cancer: (also) crucial for treatment access and decisions
16.45-17.15Bjarni V HalldórssonLong read sequencing of 1,817 Icelanders provides insight into the role of structural variants in human disease.
17.15-18.00 Prizes and Closing remarks
18.00-19.30Reception (Grand Hall 1)


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