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Dr. Federica Montanaro
30 Guilford Street
Tel: +44 (0)2079052872
Dr. Federica Montanaro profile picture
  • 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.


Research Groups
Research Summary

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
Academic Background
1999   Doctor of Philosophy McGill University
1991   Bachelor of Science McGill University
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