I have always been curious about how science can be turned into real treatments for patients and address unmet medical needs. This interest has guided my studies and career in biotechnology.

I earned my Bachelor’s in Biotechnology and, in October 2022, my Master’s in Pharmaceutical Biotechnologies with honors, both from the University of Padova. During my master’s, I focused on molecular biology and drug development, completing my thesis at EPFL (École Polytechnique Fédérale de Lausanne) on macrocycle-based ligands for challenging disease targets.

After graduation, I joined Hoffmann-La Roche in Basel, where I worked for nearly three years in the oligonucleotide field. I contributed to the chemo-enzymatic synthesis of oligonucleotides for neurodegenerative diseases, co-authored a publication, and was named as a co-inventor on patent applications. I also helped improve large-scale oligonucleotide workflows under GMP conditions, gaining experience in both innovation and process development.

 

On September 1, 2025, I started a new chapter as a Marie Curie PhD fellow at Biobizkaia in Bilbao, within the EFFecT consortium (DC4). My research focuses on developing novel oligonucleotide-based methods to advance therapies for neuromuscular diseases.

 

Outside the lab, I enjoy cooking pasta, experimenting with new recipes, and hiking. A fun fact: although I am Sicilian, I do not drink coffee and cannot stand the smell of mandarins!

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DC4: Design and Evaluation of Therapeutic Antisense Oligonucleotides (ASOs) for Rare Diseases Affecting Skeletal Muscle

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Supervisor: Prof. Arechavala-Gomeza

External mentor: Prof. R. Collin

Host Institute: Biobizkaia Health Research Institute, Spain (www.bio-bizkaia.eus)

Secondments planned: Radboud University Medical Center, The Netherlands; University College London, UK

Doctoral program: University of the Basque Country (UPV/EHU), Molecular biology and biomedicine doctoral program

Starting date: September 1st, 2025

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Project description:

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This project focuses on the development and evaluation of innovative therapeutic antisense oligonucleotides (ASOs) for rare neuromuscular disorders with skeletal muscle involvement. Hosted by the Nucleic Acid Therapeutics for Rare Diseases Group at Biobizkaia, a team with extensive expertise in ASO development and therapeutic evaluation, this research builds on robust in vitro platforms established in the lab. These platforms, based on in-cell western and digital droplet PCR (ddPCR), are used to assess therapies for Duchenne muscular dystrophy (DMD), myotonic dystrophy type 1 (DM1), and collagen VI-related disorders (COL6 RD). More information about the group can be found here.

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The project will design ASOs targeting specific patient mutations and screen the most promising candidates in advanced cellular models, including primary muscle cell cultures, iPSC-derived myoblasts, and fibroblasts. It will also address a critical challenge: improving the delivery efficiency of ASOs to skeletal muscle. The project includes international secondments for additional training and expertise. At Radboud University Medical Center (RUMC), the candidate will gain experience in culturing iPSCs and generating CRISPR/Cas9-edited iPSC lines. At UCL, ASO candidates will be evaluated in animal models to assess their therapeutic potential. An additional secondment will be tailored to the candidate’s specific research needs.