I was awarded a PhD in Biotechnologies at the Padua University, my research described the role of inflammation in muscle regeneration. Afterwards, I joined the gene therapy laboratory at Royal Holloway, and since then I contributed to the development of novel gene therapy agents and antisense therapeutics for the treatment of muscular dystrophies and other muscle conditions. My initial work was focused on developing antisense reagents for exon skipping of Duchenne muscular dystrophy. I was appointed for 2 years as independent research fellow at the Royal Veterinary College in London, where I developed a scientific program based on new splicing-modulating molecules for the treatment of ischemic diseases in muscle. In 2013, I re-joined the gene therapy laboratory at Royal Holloway as project manager to work on the optimization of gene therapies and antisense therapeutics for a number of muscle diseases. I collaborated on the development of a gene therapy AAV vector for Oculopharyngeal Muscular Dystrophy (OPMD), a rare muscle disease. In December 2023 this vector entered the first-in-human phase I/II clinical trial. I worked within the Unite DMD consortium to complete the preclinical development of an AAV-microdystrophin gene therapy that is now in clinical trial in France and UK. I became a lecturer in gene therapy in 2022 and I am currently leading the Gene Medicine Laboratory for Rare Diseases; our work focuses on developing new genetic treatments for muscular dystrophy and muscle diseases.

Opportunities in this area: Find-a-phd

MSc in Biological Sciences Research

The Gene Medicine Laboratory for Rare Diseases is focused on finding new treatments for muscle pathologies. We use gene therapy technologies to target molecular defects in pre-clinical models of rare neuromuscular diseases such as Duchenne muscular dystrophy (DMD), Oculopharyngeal muscular dystrophy (OPMD) and Facioscapulohumeral muscular dystrophy (FSHD). These include:

• Antisense oligonucleotides (AO) to induce exon skipping and siRNA therapeutics to silence gene expression;
• Gene replacement approaches based on viral (Adeno-associated virus and Lentivirus) and non-viral vectors;
• Gene editing applications to correct genetic defects or to modify transcriptional processes;
• Pharmacological agents that can improve the dystrophic pathology and that can have additive or synergistic effects when combined with gene therapy applications.

We have solid collaborations with national and international academics and with Industry partners to develop gene therapy reagents, antisense therapeutics and pharmacological agents that have potential for clinical translation.

Human DMD Cells

Group members:

Dr Alberto Malerba: PI

Dr James March: Postdoctoral Researcher

Dr Alexis Boulinguiez: Postdoctoral Researcher

Rooh Ullah: PhD student

Rida Javed: PhD student

Dr Penelope Smith: Lab Admin Manager