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


Advanced diagnosis & Therapy


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 exomesEline Van Vooren - An in vitro enzymatic assay to elucidate the VUS problem in RPE65, a target for retinal gene therapyKaro De Rycke - Zebrafish as a tool to study cardiovascular effects caused by fibrillin impairmentLukas Nollet - Serum calcification propensity T50 as a novel biomarker for disease severity in patients with pseudoxanthoma elasticumMarjolein Carron - Modelling of RCBTB1-associated inherited retinal disease in Xenopus tropicalis indicates a role for RCBTB1 in cell polarity and oxidative stress responsesMaria del Rocío Pérez Baca - A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) geneAndy 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 FOXG1Lisa Dangreau - The pseudoxanthoma elasticum zebrafish model contributes to novel pathophysiological insights and therapeutic strategies in ectopic mineralizationHannes 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 interpretationMichiel Vanhooydonck - Establishment of the first reported zebrafish model for thoracic aortic dissection & ruptureSofia 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 characteristicsCharlotte 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 variantsLynn Backers – ATRIP-deficient patient expands molecular and clinical spectrum of seckel syndromeSophie Debaenst – Crispant analysis in zebrafish as a tool for rapid functional screening of disease-causing genes for Osteogenesis ImperfectaLieselot Vincke – Characterization of the genetic architecture of inherited retinal disease in a consanguineous Iranian cohortLisa 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


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 RNAsTamara Jarayseh - A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataractRobin Vroman - The matrisome of the murine and human dorsal root ganglion: a transcriptomal approachMelissa Pille - The role of the Wiskott-aldrich Syndrome protein in the development of T cellsAlfredo Dueñas Rey – Identification and characterization of a novel retina-specific lncRNA upstream ABCA4 with a potential role in ABCA4-associated inherited retinal diseaseViolette Deleeuw - Defects in the first hybrid domain of fibrillin-1 affect vascular wall homeostasis in the thoracic aortaMünevver 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


Keynote speakers

Nicky Whiffin
Nicky Whiffin Group leader & Henry Dale Fellow at University of Oxford
Willeke Van Roon-Mom
Willeke Van Roon-Mom Professor at Leiden University Medical Center
Musa Mhlanga
Musa Mhlanga Research group leader at csir & imm

Short platform speakers

All our speakers look forward to meeting you at the RARE-MED symposium!

Elfride De Baere
Elfride De Baere RARE-MED coordinator
Eva D’haene
Eva D’haene Postdoctoral researcher, Department of Biomolecular Medicine, Ghent University
Lisa Dangreau
Lisa Dangreau PhD student, Department of Biomolecular Medicine, Ghent University
Hannes Syryn
Hannes Syryn PhD student, Department of Biomolecular Medicine, Ghent University
Laurenz De Cock
Laurenz De Cock PhD student, Department of Biomolecular Medicine, Ghent University
Michiel Vanhooydonck
Michiel Vanhooydonck PhD student, Department of Biomolecular Medicine, Ghent University
Sofia Papadimitriou
Sofia Papadimitriou Postdoctoral researcher, Department of Biomolecular Medicine, Ghent University
Leslie Naesens
Leslie Naesens PhD student, Department of General Internal Medicine, Ghent University
Tamara Jarayseh
Tamara Jarayseh PhD student, Department of Biomolecular Medicine, Ghent University
Robin Vroman
Robin Vroman PhD student, Department of Biomolecular Medicine, Ghent University
Melissa Pille
Melissa Pille PhD student, Department of Diagnostic Sciences, Ghent University
Alfredo Dueñas Rey
Alfredo Dueñas Rey PhD student, Department of Biomolecular Medicine, Ghent University
Violette Deleeuw
Violette Deleeuw PhD student, Department of Biomolecular Medicine, Ghent University
Münevver Burcu Çiçekdal
Münevver Burcu Çiçekdal PhD student, Department of Biomedical molecular biology, Ghent University

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