RARE-MED
Symposium 2022

RARE-MED is a multidisciplinary UGent consortium for basic and translational research on precision medicine for rare diseases.

We are delighted to invite you to the hybrid RARE-MED SYMPOSIUM on 08-12-2022, 09:00-17:00, Aula, Ghent.

We are happy to welcome three fabulous keynote speakers covering Non-coding variation, Nicky Whiffin (University of Oxford), Functional Genomics, Musa Mhlanga (Radboud University, Nijmegen, The Netherlands) and RNA Therapy of Neurological Diseases, Willeke van Roon-Mom (Leiden University Medical Center & Dutch Center for RNA Therapeutics, Leiden, The Netherlands). Apart from this, talented young researchers will have the opportunity to present their rare disease research. You can find the full program below.

Currently registration for onsite attendance is not possible anymore. However, we still accept registration for virtual attendance. To do so, please register before Tuesday December 6, 1PM (CET) using the registration link below. Please be aware that an abstract submission is not possible anymore.

We look forward to meeting you at the RARE-MED symposium!

Prof.dr. Elfride De Baere
Prof.dr. Sarah Vergult
Prof.dr. Kris Vleminckx
Prof.dr. Frauke Coppieters
Dr. Karolien Aelbrecht

Symposium Pictures

December 08, 2022 – Aula, Ghent, Belgium

Abstract book

It is with great pleasure that we welcome you to the second RARE-MED symposium, which will be unique for several reasons. First, we will hear three renowned keynote speakers covering non-coding variation (Nicky Whiffin), RNA therapeutics (Willeke Van Roon-Mom) and functional genomics (Musa Mhlanga) in rare diseases.

Apart from this, 26 young investigators will present their exciting research on rare diseases during the short platform presentations and the 1’ poster pitches.

Symposium Program

December 08, 2022 – Aula, Ghent, Belgium

Morning

Advanced diagnosis & Therapy

Welcome

Elfride De Baere, RARE-MED coordinator

09:00

Keynote speaker I

Nicky Whiffin – Interpretation of non-coding variation in rare diseases

09:05

1’ Poster pitches

Annelies Dheedene - Inherited pathogenic variants in neurodevelopmental disorders: a potential pitfall in trio-based analysis of clinical exomes

Eline Van Vooren - An in vitro enzymatic assay to elucidate the VUS problem in RPE65, a target for retinal gene therapy

Karo De Rycke - Zebrafish as a tool to study cardiovascular effects caused by fibrillin impairment

Lukas Nollet - Serum calcification propensity T50 as a novel biomarker for disease severity in patients with pseudoxanthoma elasticum

Marjolein Carron - Modelling of RCBTB1-associated inherited retinal disease in Xenopus tropicalis indicates a role for RCBTB1 in cell polarity and oxidative stress responses

Maria del Rocío Pérez Baca - A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene

Andy Willaert – Zebrafish Facility Ghent – A new UGent CORE facility

09:50

Part I: Short platform presentations (10’)

Eva D’haene - Structural variants disrupt a critical regulatory region downstream of FOXG1

Lisa Dangreau - The pseudoxanthoma elasticum zebrafish model contributes to novel pathophysiological insights and therapeutic strategies in ectopic mineralization

Hannes Syryn - Whole exome sequencing advances a genetic diagnosis in patients with differences of sex development

10:00

Coffee break

10:40

Part II: Short platform presentations (10’)

Laurenz De Cock - The added value of RNA-sequencing in exome variant interpretation

Michiel Vanhooydonck - Establishment of the first reported zebrafish model for thoracic aortic dissection & rupture

Sofia Papadimitriou - The importance of good data quality and proper pathogenicity reporting in the medical genetics field: the case of oligogenic diseases

11:10

Keynote speaker II

Willeke Van Roon-Mom – RNA Therapy of Neurological and Rare Diseases

11:50

1’ Poster pitches

Marlies Colman – Defective collagen biosynthesis in kyphoscoliotic Ehlers-Danlos syndrome due to pathogenic variants in PLOD1 and FKBP14: further insights into the common pathophysiological mechanisms and comparison of clinical characteristics

Charlotte Matton – FOXL2 mutation update for BPES, a syndromic form of POI: in silico assessment and ACMG classification of 394 unique sequence variants, and review of structural variants

Lynn Backers – ATRIP-deficient patient expands molecular and clinical spectrum of seckel syndrome

Sophie Debaenst – Crispant analysis in zebrafish as a tool for rapid functional screening of disease-causing genes for Osteogenesis Imperfecta

Lieselot Vincke – Characterization of the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort

Lisa Hamerlinck – An optimized workflow for CRISPR/Cas9-mediated generation of indels and large deletions in induced pluripotent stem cells and neural stem cells

12:35

Afternoon

Disease Models & Functional Genomics

Part III: Short platform presentations (10’)

Leslie Naesens - Human GTF3A deficiency predisposes to neuroinvasive HSV-1 infection by disrupted transcription of host-derived non-coding RNAs

Tamara Jarayseh - A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract

Robin Vroman - The matrisome of the murine and human dorsal root ganglion: a transcriptomal approach

Melissa Pille - The role of the Wiskott-aldrich Syndrome protein in the development of T cells

Alfredo Dueñas Rey – Identification and characterization of a novel retina-specific lncRNA upstream ABCA4 with a potential role in ABCA4-associated inherited retinal disease

Violette Deleeuw - Defects in the first hybrid domain of fibrillin-1 affect vascular wall homeostasis in the thoracic aorta

Münevver Burcu Çiçekdal - CRISPR/Cas9 mediated disruption of an evolutionary conserved putative enhancer in the mab21l2 locus induces developmental eye anomalies in Xenopus tropicalis

14:00