StarT Final Conference, hosted by Fighting Blindness at Retina 2022

On Thursday, November 3, 2022 three keynote speakers Mariya Moosajee, Rando Allikmets and Alessandra Recchia will cover the areas of IRD Genomics, Mechanisms of Disease, and Therapeutics. In addition, our 14 StarT ESR fellows will present their exciting PhD research. Tickets for the StarT Day are invite-only, however, there is the option to attend the event virtually. Click here to book you tickets!

Speakers and agenda of the StarT final conference:

Session 1: Mechanisms of Inherited Retinal Diseases. Chairs: Sandro Banfi, Zelia Corradi

• 09:00 – 9:45 Insights into IRD pathophysiology through disease modelling- patients to cells and zebrafish – Mariya Moosajee, UCL Institute of Ophthalmology, Francis Crick Institute, Moorfields Eye Hospital and Great Ormond Street Hospital for Children, London, UK.
  
• 9:45 – 10:00 Meta-analysis of human retinal transcriptome data  – Karla Ruiz
• 10:00 – 10:15 Interaction map of cis‐regulatory elements controlling ABCA4 in human retina – Soraya Kalayanamontri
• 10:15 – 10:30 Mapping the cis-regulatory landscape of ABCA4 in adult human retina – Victor Lopez Soriano
• 10:30 – 10:45 Functional assessment of cis-regulatory elements of ABCA4 and characterization of an abca4 knock-out model in Xenopus tropicalis – Münevver Burcu Cicekdal
• 10:45 – 11:00 Identification and characterization of a novel retina-specific lncRNA upstream ABCA4 with a potential role in ABCA4-associated inherited retinal disease – Alfredo Dueñas Rey

 
Session 2: Omics towards better diagnosis of IRD. Chairs: Carmel Toomes, Pietro De Angeli

• 11:30 – 12:15 Integrating Clinical and Structure/Functional Analysis of the Complex ABCA4 Locus – Rando Allikmets, Columbia University, New York
• 12:15 -12:30 Phasing at the ABCA4 locus – Ben McClinton
• 12:30  -12:45 Identification and splice assays of deep-intronic ABCA4 variants in mono-allelic STGD1 – Zelia Corradi
• 12:45 – 13:00 Uncovering the missing inheritance of monoallelic STGD1 cases through retinal organoid modelling and long-read RNA sequencing – Avril Watson
• 13:00 – 13:15 Antisense oligonucleotide-based splicing modulation therapies for deep-intronic ABCA4 variants in Stargardt Disease – Nuria Suárez Herrera
• 13:15 – 13:30 Antisense oligonucleotide-mediated treatment of STGD1 caused by variants in ABCA4 – Melita Kaltak

 
Session 3: New Therapies for IRD: Chairs: Susanne Kohl, Alfredo Dueñas Rey

• 15:00 – 15:45 Gene editing prospects for treating inherited retinal diseases – Alessandra Recchia, University of Modena and Reggio Emilia, Italy
  
• 15:45 – 16:00 Pharmacological rescue of ABCA4 missense variant misfolding and traffic – Davide Piccolo
• 16:00 – 16:15 AAV-mediated modulation of mitochondrial function in in vitro and in vivo models of Stargardt Disease – Iris Post
• 16:15 – 16:30 Somatic or germline ABCA4 editing to generate a pig model of Stargardt disease type 1 – Eugenio Pugni
• 16:30 – 16:45 Effective CRISPR/Cas9-mediated rescue of an ABCA4 splicing defect in photoreceptor precursor cells – Pietro De Angeli
• 17:00 – 17:10 Closing Presentation – Elfride De Baere, StarT coordinator

On Friday, November 4, 2022, you can join the Retina Fighting Blindness Scientific Day. Click here to book your tickets.
On Saturday, November 5 there will be the popular Public Engagement Day.

You can check the Speakers and the Agenda here.