Programme

Day 1 (Monday September 8th)

09:00 - 09:30 REGISTRATION

09:30 - 09:40 WELCOME prof. Nicky Ragge, prof. Elfride De Baere

09:40 - 11:00 SESSION 1 Frontiers in genetic diagnostics

9.45-10.00 Dorine Bax Understanding genes and pathways for human eye development: a research journey over 2 decades continues to reveal new genes and pathways

10.00-10.15 Mara Maftei Enhancing the molecular diagnosis of congenital eye globe defects: Improvements in whole genome screening, novel gene discovery, and zebrafish functional validation.

10.15-10.30 Bertrand Chesneau Unveiling Ocular Developmental Disorders Through Whole-Genome Sequencing

10.30-10.45 Khadim Shah Whole genome sequencing in patients with microphthalmia, anophthalmia and coloboma (MAC)

10:45 - 11:15 COFFEE BREAK

11:15 – 12:00 GUEST SPEAKER: prof. Elena Semina, Medical College of Wisconsin in Milwaukee, USA. Title: Transcription factors in developmental eye disorders: new players and mechanisms

12:00 - 12:45 SESSION 2 Transcription Factors

12.00-12.15 Solomon Merepa NR6A1 oculo-vertebral-renal syndrome: a multicentre study reveals a broader spectrum of features BioID reveals that NR2E3 mediates transcriptional repression through the AP-1 complex

12.15-12.30 Edith de Bruycker BioID reveals that NR2E3 mediates transcriptional repression through the AP-1 complex

12.30-12.45 Jack Nicholls Identification of novel genes involved in fovea formation

12:45 – 14:15 LUNCH BREAK

14:15 - 15:30 SESSION 3 Finding nemo: Aquatic models for developmental eye diseases

14.15-14.30 Anne Slavotinek Single cell RNA-Seq dataset in a zebrafish model of crim1-/- loss of function shows dysregulation of genes involved in cell adhesion and apoptosis

14.30-14.45 Jesus Jose Ferre Fernandez Loss of gpatch3 function in zebrafish results in eye and facial abnormalities with incomplete penetrance

14.45-15.00 Rodrigo Young Addressing the function of congenital eye defect-related genes through a CRISPR screen in zebrafish

15.00-15.10 Thomas Naert CRISPR/Cas9-mediated knockout of rcbtb1 in Xenopus Tropicalis affects RPE homeostasis leading to retinal dystrophy

15.15-15.30 Munevver Burcu Cicekdal SF3B2-Related Spliceosomopathy: Gain and Loss of Function Variants Cause Divergent Phenotypes of Retinal Degeneration and Craniofacial Malformation

15:30 - 16:00 COFFEE BREAK

16:00 – 16:45 GUEST SPEAKER: prof. Juan Ramón Martínez-Morales, Centro Andaluz de Biología del Desarrollo, Seville, Spain. Title: Multiome approaches to characterize the architecture of gene specification networks in the developing zebrafish eye

16:45 - END OF SCIENTIFIC SESSIONS

17:00-18:00 – SELF-GUIDED TOUR OF GHENT

19:00 – NETWORKING EVENT (Patyntje, Gordunakaai 91, 9000 Ghent)

Day 2 (Tuesday September 9th)

09:00 - 09:30 REGISTRATION

09:30 - 10:45 SESSION 1 Cracking the code: Novel genes, mechanisms and technologies

9.30-9.45 Paola Brandi Intracellular and extracellular microRNA mediated crosstalk in both healthy and diseased retina.

9.45-10.00 Stijn van de Sompele Single-molecule technologies advance the identification and interpretation of complex non-coding and mosaic structural variants in inherited eye diseases

10.00-10.15 Anneke Vulto- van Silfhout Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine and neuromuscular ciliopathy

10.15-10.30 Zoeline Mars An RNA Helicase gene associated with predisposition to malignancies is responsible for syndromic retinal dystrophy

10.30-10.45 Eline Geens & Eline Van Vooren Discovery, replication and characterization of a novel dominant RPE65-related retinopathy due to founder variant p.(E519K) expanding the therapeutic potential

10:45 - 11:15 COFFEE BREAK

11:15 - 12:30 SESSION 2 Back to the clinic: New genotype-phenotype associations

11.15-11.45 Jacques Michaud Study of the natural history of RARB-related disorders

11.45-12.00 Richard Holt Loss-of-function variants affecting zinc-finger homeobox 4 (ZFHX4): developmental eye features and zebrafish motor responses

12.00-12.15 Carolina Ruiz Sanchez Non-canonical splicing variants as genetic cause of Nance-Horan syndrome

12.15-12.30 Fabiola Ceroni New cases with pathogenic variants in the epigenetic regulatory gene KDM2B highlight its role in developmental eye anomalies

12:30 - 13:30 LUNCH BREAK

13:30 - 14:00 CORPORATE SPONSOR SESSION

14:00 - 14:15 GOOD NETWORK MEETING

14:15 - 15:30 SESSION 3 Solving the unsolved - GoODMatcher

14.15-14.30 Karthikah Jeganathan SpliceAI identifies and predicts effect of an intronic DOCK6 variant in an individual with structural eye anomalies

14.30-14.45 Nicolas Chassaing Congenital cataract in three unrelated Individuals explained by CRYBB2 gene conversion.

14.45-15.00 Sylvain Ernest A Chromosome 9 Tandem Duplication Leading to Gene Fusion Causes Autosomal-Dominant Stellate Maculopathy with Sensorineural Hearing Loss

15.00-15.15 Charlotte Matton Cross-species non-coding defects define the FOXL2 regulatory domain in a rare eye enhanceropathy

15.15-15.30 Jean-Michel Rozet Is Aberrant Post-Translational Modification of eEF1A Involved in the Pathogenesis of Septo-Optic Dysplasia?

15:30 - 15.50 COFFEE BREAK

15:50 - 16.35 GUEST SPEAKER: prof. Alice Davidson, University College London, UK. Title: TCF4-driven triplet repeat expansion mediated disease: novel mechanistic insights, diagnostic and therapeutic approaches

16:35 END OF MEETING