Belgian Society for Human Genetics


19th annual BeSHG meeting: Precision Medicine: Application of Genetics in Prevention and Treatment

Palais Des Congres, Liège

Friday, 15 march 2019

abstract book       presentation AGM 2018       Agenda AGM 2019      -->

Preliminary Program

08.00-09.00 Registrationcoffee(Grand Foyer)
09.00-09.15Welcome and introduction by the President of the BeSHGGert Matthijs
09.15-10.45Morning sessionchair: Damien Lederer & Leonor Palmeira(Grand Foyer)
09.15-10.00Kevin SouthernClassification and treatment of CFTR variants
10.00-10.45Janice KielbassaBioinformatics meets Cancer Genomics
10.45-11.15 Annual General Assembly BeSHG
11.15-11.45 Coffee break, poster session and exhibition
11.45-12.30 Parallel Session: Selected oral presentations I chair: Julie Soblet & Saskia Bulk(Grand Foyer)
Brecht GuillemynA homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta
Lore PottieKnock-out of atp6v1e1b in zebrafish faithfully recapitulates the human cutis laxa syndrome and highlights the endosomal pathway in disease pathogenesis
Sarah GeursSomatic Genome Instability in Human normal and Tauopathy Brain
11.45-12.30 Parallel Session: Selected oral presentations II - clinical & counsellorschair: Kathelijn Keymolen & Mauricette Jamar(Salle Mosane)
Marlies SaelaertCriteria for reporting incidental findings in clinical whole exome sequencing - Professional practice and perspective in Belgian genetic centres
Gitta BoonsTumor-specific genetic variants can be detected in cell-free DNA of metastatic pancreatic neuroendocrine tumor patients
Nathalie BrisonThe landscape of pathogenic copy number variations in healthy, reproducing females. Results from 1 year genome-wide noninvasive prenatal testing.
12.30-14.00 Lunch, Poster Viewing, Exhibiton and Company Visits(Hall)
14.00-15.00 Parallel Session: Selected oral presentations IIIchair: Bert Callewaert & Aimé Lumaka (Grand Foyer)
Kristof Van SchilBiallelic loss-of-function alleles of the SCLT1 gene cause a variable phenotypic spectrum of retinal ciliopathies
Miriam BauwensABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel non-coding splice, cis-regulatory, structural and recurrent hypomorphic variants
Carolina NunesThe ribonucleotide reductase subunit M2 (RRM2) is a druggable copy number driven dependency gene in the childhood cancer neuroblastoma
Jean-François Van BellinghenClinical Exome Solution: the Big panel to answer Big questions (Sophiagenetics)
14.00-15.00 Parallel Session: Selected oral presentations IV - technical & bioinformaticschair: Nisha Limaye & Cécile Libioulle (Salle Mosane)
Ewa SieliwonczykIn vivo optical mapping of cardiac action potentials in zebrafish larvae
Lisanne VervoortOptical mapping of 22q11.2 Low Copy Repeats reveals structural interindividual hypervariability
Charlotte HerzeelelPrep 4: A high-performance tool for sequence analysis
Huiwen CheFetal sex determination in twin pregnancies using non-invasive prenatal testing
15.00-15.30 Coffee break, poster session and exhibition (Hall)
15.30-17.15 Afternoon sessionchair: Gert Matthijs & Vincent Bours (Grand Foyer)
15.30-16.15Elisa MagrinFrench experience on gene therapy for Haemoglobinopathies: past, present and future
16.15-17.00Thierry FrébourgTowards a personalized and appropriate medical management of TP53 variation carriers
17.00-17.15Romain AlderweireldtFondation 101 genomes
17.15-17.45 Prizes and Closing remarks
17.45-19.30Reception (Hall)


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