Joint BeSHG / NVHG meeting & Genetics Retreat 2022

Registration

Breakfast is included

Welcome and Introduction by the President of the BeSHG and NVHG

Gert Matthijs and Mieke Van Haelst

A chromatin-regulated biphasic circuit coordinates inflammation and trained immunity.

Musa Mhlanga

Cell-type-specific expression of 3’ UTR isoforms: quantification, modelling, prediction of functional relevance.

Mihaela Zavolan

Mapping the 3D genome of the human retina and its role in retinal disease.

Eva D'haene

Single-cell evaluation of DNA damage in offspring after prenatal exposure to chemotherapy.

Ilana Struys

Hybrid Autoencoder with Orthogonal Latent Space for Robust Population Structure Inference.

Meng Yuan

Mutational processes in a Dutch cohort of children with Constitutional Mismatch Repair Deficiency.

Dilys Weijers

Meeting demands: scaling up Whole Exome Sequencing library prep in a ISO15189 accredited genome-diagnostics laboratory.

Bert van der Zwaag

An unexpected moonlighting function of GTF3A in anti-herpesviral immunity: a new monogenic cause of herpes simplex encephalitis?

Simon Tavernier

Loss of adipocyte phospholipase gene PLAAT3 causes lipodystrophy with neurological features due to inactivated arachidonic acid-mediated PPAR𝛾 signaling.

Nika Schuermans

Somatic activating PIK3R1 and non-hotspot PIK3CA mutations associated with a newly identified clinical phenotype: Capillary Malformation with Dilated Veins (CMDV).

Martina De Bortoli

MAN2C1, a new gene associated with the development of cortical malformations.

Hamide Yildirim

CAMLG-CDG: a novel Congenital Disorder of Glycosylation linked to defective membrane trafficking.

Matthew Wilson

A cross-country comparison of women’s perspectives on non-invasive prenatal testing in Belgium and the Netherlands.

Karuna van der Meij

The presence of viral DNA in a cohort of 108,349 Dutch NIPT samples and its relation to characteristics in pregnancy and cell-free DNA biology.

Jasper Linthorst

Multicentric longitudinal performance monitoring of different non-invasive prenatal screening technologies used in Belgium.

Armelle Duquenne

Noninvasive Prenatal Test results indicative of maternal malignancies: A nationwide genetic and clinical follow-up study.

Catharina J. Heesterbeek

NICUSeq: A Trial to Evaluate the Clinicak Utility of Human Whole-Genome Sequencing (WGS) Compared to Standard of Care in Acute Care Neonates and Infants (NICU-Seq).

Virginie Bros-Facer

Generic genome sequencing: one lab flow for all.

Gaby Schobers

GENType: all-in-one preimplantation genetic testing by pedigree haplotyping and copy number profiling suitable for third-party reproduction.

Machteld Baetens

The Dutch Center for RNA Therapeutics: a center to develop antisense oligonucleotide therapies for patients with nano-rare mutations.

Marlen Lauffer

Analysis of the genomewide BAF profiles of selected SNPs allows reliable aneuploidy detection in preimplantation embryos, independent of haplotyping.

Pieter Verdyck

Automated qPCR and NGS assays for Biomarker Validation and Discovery.

Rajendra Kumar Chauhan

Introduction to 1+ M Genomes initiative.

Ruben Kok

Towards an interoperable infrastructure for human genomic data in Belgium.

Frederik Coppens

Genome of Europe, and The Netherlands.

André Uitterlinden

From Biobanking to Personal Medicine.

Andres Metspalu

Debate on 1M+ Genomes initiative.

Moderators: Wendy van Zelst-Stams & Elfride De Baere

Registration

Working on topics related to the regulation of gene expression, particularly at the post-transcriptional and translational level, in the Risk-adjusted breast cancer screening: are we ready?

Peter Devilee

Polygenic scores for cardiovascular diseases: ready for clinical use?

Rens Reeskamp

General assembly BeSHG

Gert Matthijs

General assembly NVHG

Mieke van Haelst

A tapt1 knockout zebrafish line with aberrant lens development and impaired vision models human pediatric cataract.

Tamara Jarayseh

Single-cell transcriptional dynamics and in vivo enhancer assays provide insight into gene regulatory networks of PRDM13 and IRX1 implicated in North Carolina macular dystrophy.

Munevver Burcu Cicekdal

SRSF1 haploinsufficiency is responsible for a new syndromic form of developmental delay including marfanoid habitus with intellectual disability.

Elke Bogaert

Live mouse tracker reveals autistic symptoms in the Fmr1 KO mouse model.

Mathijs van der Lei

A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene.

María del Rocío Pérez Baca

Routine transcriptome sequencing improves diagnosis for neurodevelopmental disorders by identifying pathogenic effects of non-coding, putatively benign and missed variants.

Jordy Dekker

Overview of cancer predisposition syndromes in a national, unselected cohort of 836 children with a neoplasm.

Jette Bakhuizen

Polygenic risk scores predict overweight and obesity in the Dutch population.

Bahar Sedaghati-khayat

The potential of 3D facial analysis to recognize monogenic autism in the spectrum.

Yoeri Sleyp

BRCA testing to identify patients eligible for PARPi treatments across different indications.

Robin de Putter

Enhancing rare variant classification with gene and disease-specific quantitative approaches.

Roddy Walsh

New insights and unsolved questions in the genetics of frontotemporal lobar degeneration.

Rosa Rademakers