Jim Dowling is a consultant pediatric neurologist at the Hospital for Sick Children, an assistant professor in the department of pediatrics and molecular genetics at the University of Toronto, and a scientist in Genetics and Genome Biology at the SickKids research institute. His clinical focus is on the diagnosis and care of patients with neuromuscular disorders, with a particular emphasis on congenital myopathies. His research program concerns multiple aspects of congenital muscle diseases, including new gene discovery, studies to define the basic molecular underpinnings of muscle disease, and new treatment identification. To date, through pioneering work using the zebrafish model system, Dowling and his team have discovered several new causes of myopathy and have identified new therapies that are being advanced to the clinical arena.
Jim Dowling also presented his work at the conference #TogetherEvenStronger in Niedernhausen, Germany on May 7. His topic was:
How could reducing the activity of the enzyme PI3-Kinase be a possible therapy for myotubular myopathy? What have we learnt so far?
At present, there are no proven therapies for myotubular myopathy. Gene and enzyme replacement therapy hold great promise. However, alternative approaches still have outstanding merit as potential treatments, either as “stand alone” medicines or in combination with genetic therapy. In this study, I will describe our efforts to identify and develop treatments based on modification of the enzymes that counterbalance MTM1.
- video from the conference is available at the end of this information list
- contact data and full bio is available at the site of Sickkids.
- Jim Dowling’s work is supported by the Myotubuar Trust.
His lay summary can for his last project can be read here
- Cyclica Announces Collaboration with Dr. James Dowling of SickKids to Identify Potential Therapies for Myotubular Myopathy
- recent article published on August 22,2016 in J Clin Invest. 2016. doi:10.1172/JCI86841. : PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models