


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
Keynote speaker I
Nicky Whiffin – Interpretation of non-coding variation in rare diseases
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
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
Coffee break
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
Keynote speaker II
Willeke Van Roon-Mom – RNA Therapy of Neurological and Rare Diseases
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
Platinum Sponsor Talk by Novartis
Lunch & Poster Session
Golden Sponsor Talk during Lunch by Bionano Genomics
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
Coffee break
Keynote speaker III
Musa Mhlanga – A chromatin-regulated biphasic circuit coordinates inflammation and trained immunity
Best Presentation Awards - Closure
Reception
Short platform speakers
All our speakers look forward to meeting you at the RARE-MED symposium!



























