Ana Buj-Bello graduated from the Faculty of Medicine, University of Lleida, Spain in 1994, and gained her PhD on developmental neurobiology at the School of Biological and Medical Sciences, University of St. Andrews, Scotland. She is now INSERM researcher and group leader at Genethon, in Evry, France.
Ana Buj-Bello has worked on myotubular myopathy for several years and generated two mouse models of the disease. Studies using these mice showed that skeletal muscle is indeed the primary tissue involved in the pathogenesis of X-linked MTM and that myotubularin is essential for muscle growth and proper distribution of organelles in myofibres. In 2009, Ana Buj Bello was awarded a two year grant by the Myotubular Trust to develop a variety of therapeutic ‘rescue’ approaches, such as gene therapy and drug administration.
In 2013, she was awarded another two year grant to bring gene therapy through the preclinical phase. This grant covers creating new vectors that have are even more specific to muscles, defining the all important dosage and route of the drug administration for human clinical trials, and ultimately creating the human vector to be used in those trials in humans.
How is Gene therapy working? What have we learnt from the work with dogs? What happens to bring this to a human clinical trial?
We have previously shown that gene therapy is efficacious in both mice and dogs affected by myotubular myopathy. During our presentation, we will provide an overview on how gene therapy works.
In the short film of the Myotubulart Trust she explains on the prospects of gene therapy for x-linked myotubular myopathy:
David L. Mack, Karine Poulard, Melissa A. Goddard, Virginie Latournerie, Jessica M. Snyder, Robert W. Grange, Matthew R. Elverman, Jérôme Denard, Philippe Veron, Laurine Buscara, Christine Le Bec, Jean-Yves Hogrel, Annie G. Brezovec, Hui Meng, Lin Yang, Fujun Liu, Michael O’Callaghan, Nikhil Gopal, Valerie E. Kelly, Barbara K. Smith, Jennifer L. Strande, Fulvio Mavilio, Alan H. Beggs, Federico Mingozzi, Michael W. Lawlor, Ana Buj-Bello, Martin K. Childers (2017)
Systemic AAV8-mediated gene therapy drives whole-body correction of myotubular myopathy in dogs, Molecular Therapy [in press, DOI: http://dx.doi.org/10.1016/j.ymthe.2017.02.004]
Lawlor MW, Armstrong D, Viola MG, Widrick JJ, Meng H, Grange RW, Childers MK, Hsu CP, O’Callaghan M, Pierson CR, Buj-Bello A, Beggs AH. (2013), Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with x-linked myotubular myopathy. Hum Mol Genet. 2013 Apr 15;22(8):1525-38.
This publications explains successful enzyme replacement in mice.