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DC11 - Martina Cadeddu

My passion for scientific research began in high school, where my science teacher first introduced me to the fundamental concepts of molecular biology and genetics.

 

In July 2022 I completed my BSc (Hons) degree in Biomedical Science from Edinburgh Napier University, graduating with First Class Honours. My undergraduate thesis focused on the evaluation of the metabolic profile of Charcot–Marie–Tooth disease, aiming to identify novel biomarkers that could improve understanding of its pathophysiology.

 

In October 2023 I also completed a MSc in Genomic Medicine from Imperial College London, where I graduated with Distinction. During my Master’s thesis I investigated the cytokine expression patterns and interferon-stimulated gene responses in nasal epithelial cells, providing insights into innate immune activation mechanisms at mucosal surfaces.

 

After completing my studies, I joined the Nucleic Acid Therapy Accelerator (NATA), part of the Medical Research Council (MRC), UKRI, as a Research Assistant. Over nearly two years, I contributed to advancing oligonucleotide-based therapeutics across a range of disease models, gaining hands-on experience in pre-clinical development and translational research. My work at NATA solidified my enthusiasm for the field of nucleic acid therapeutics and inspired me to pursue a research career focused on developing innovative RNA- and DNA-based treatment strategies.

 

In October 2025, I joined Dr. Frauke Coppieters’ lab at Ghent University as a Marie SkÅ‚odowska-Curie PhD fellow within the EFFecT network. My current research focuses on developing and evaluating antisense oligonucleotides therapeutics to slow or halt the progression of rare inherited retinal diseases. 

 

In my free time, I enjoy travelling, cooking, reading, listening to music and gaming.

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DC11: Development of a disease gene agnostic ASO approach to treat inherited blindness

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Supervisor: Dr. F. Coppieters 

External mentor: Prof. V. Arechavala-Gomeza


Host Institute: Ghent University, Belgium (www.ugent.be)


Secondments planned: Astherna, The Netherlands; Université de Versailles Saint-Quentin-en-Yvelines, France


Doctoral program: Medicine and Health Sciences PhD program of Ghent University


Starting date: October 1st, 2025

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Project description:

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Inherited retinal disease (IRD) is at the forefront of gene therapy development. IRD is a major cause of early-onset vision loss or blindness with an overall prevalence of ~1/3,000. The disease is characterized by a tremendous genetic heterogeneity, with thousands of different pathogenic variants identified in over 300 genes. The majority of ASO therapies currently investigated focus on specific mutations/exons in a single disease gene, hampering application to large patient cohorts.

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This PhD project aims to explore a novel therapeutic ASO approach targeting cis-acting elements that modulate translation. This strategy will be employed to increase translation of retinal genes enhancing photoreceptor survival in patients with IRD, thus representing a novel, disease gene agnostic approach. We previously performed both in silico and wet-lab analyses to identify cis-acting elements in the human retina. DC11 will first functionally dissect novel cis-acting elements using in vitro reporter assays in cellular models. Next, DC11 will design and evaluate ASOs to modulate these cis-acting elements and as such increase protein expression in wild-type retinal models. Finally, the efficacy of the most promising ASOs will be assessed in iPSC-derived retinal models from patients with mutations across IRD genes.

This project will provide new scientific insights in retinal gene regulation by elucidating the function of novel cis-regulatory elements, and will evaluate a novel, disease gene agnostic therapeutic strategy for IRD.

Contact

HORIZON-MSCA-2023-DN — EFFecT  — No.101168372

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