Email: portico-services@ucl.ac.uk
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- Honorary Associate Professor
- Developmental Neurosciences Dept
- UCL GOS Institute of Child Health
- Faculty of Pop Health Sciences
I have obtained my PhD degree in Biology with a specialisation in Neurobiology from McGill University (Montreal, Canada) in the laboratory of Dr. Salvatore Carbonetto. My thesis work was selected for the Dean's honour list and I was awarded the Gordon A. Maclachlan prize for contributions to the field of biological and health sciences. My thesis focused on the role of dystrophin and associated proteins in muscle development and synapse formation.
I then joined the laboratory of Prof. Louis Kunkel at the Boston Children's Hospital and Harvard Medical School (Boston, USA) as an HHMI post-doctoral fellow. My post-doctoral work looked at cells involved in adult muscle regeneration and how they could be harnessed for cell based therapies.
In 2005, I started my own laboratory as an assistant professor at the Research Institute at Nationwide Children's Hospital / The Ohio State University (Columbus, USA). My group was part of the Centre for Gene Therapy where we developed a proteomics-based approach to characterise protein complexes assembled by dystrophin in skeletal and cardiac muscles. This analysis revealed proteins that interact with dystrophin only in the heart.
In 2016, I was awarded a Marie-Curie senior researcher re-integration
fellowship from the EU Horizon 2020 programme and joined the Dubowitz
Neuromuscular Centre as a senior lecturer at the Great Ormond Street Institute
of Child Health / University College London (London, UK). My current research
involves the characterisation of cardiac protein complexes assembled by
micro-dystrophin constructs currently being evaluated in four gene therapy
clinical trials. We are also investigating signalling pathways and cellular processes associated with heart failure that are perturbed in the absence of dystrophin and are not corrected by current micro-dystrophin gene therapy strategies.




My group is interested in understanding disease mechanisms and
developing treatments for Duchenne and Becker muscular dystrophies, two
neuromuscular disorders linked to mutations in the X-linked DMD gene.
Duchenne muscular dystrophy is more severe and is usually associated with a
loss of expression of the protein dystrophin in all striated muscles. Patients
become wheel chair dependent by 12 years of age, develop respiratory
complications in their late teens, and succumb to heart failure typically in
their mid-twenties. By contrast, Becker muscular dystrophy patients produce
mutant dystrophin proteins of variable functionality and stability. As a result,
Becker patients have a milder but more variable phenotype.
In 2009, we performed a genotype-phenotype study in Becker patients that
strongly suggested the existence of cardiac-specific functions of dystrophin. As
a result, my current research focuses on furthering our understanding of
cardiac disease in Duchenne and Becker patients in order to develop effective
gene therapy and/or pharmacological treatments. We are using a combination of
cutting edge proteomics-based approaches with cell biology and gene therapy
vector tools to characterise and study the cardio-protective functions of
dystrophin.
01-JAN-2016 | Senior Lecturer | Developmental Neurosciences - Molecular Neurosciences | UCL - Great Ormond Institute of Child Health, United Kingdom |
01-JAN-2016 – 31-DEC-2017 | Marie Sklodowska-Curie Senior Resear Fellow | Developmental Neurosciences - Molecular Neurosciences | UCL - Great Ormond Institute of Child Health, United Kingdom |
01-SEP-2008 – 31-DEC-2015 | Assistant Professor | Physiology and Cell Biology | The Ohio State University, United States |
03-SEP-2005 – 31-DEC-2015 | Principal Investigator | Center for Gene Therapy | The Research Institute at Nationwide Children's Hospital, United States |
03-SEP-2005 – 31-MAY-2014 | Assistant Professor | Pediatrics | The Ohio State University College of Medicine, United States |
01-NOV-1999 – 01-AUG-2005 | HHMI Post-Doctoral Fellow | Genetics | Harvard Medical School - Boston Children's Hospital, United States |
1999 | Doctor of Philosophy | McGill University | |
1991 | Bachelor of Science | McGill University |