Louisa Kent 

I completed my undergraduate training at Imperial College, London. I then undertook my neurology training in Oxford, UK. During this time I achieved a D Phil in clinical neurosciences for investigating the pathophysiology of ALS. I also completed a neuromuscular fellowship in Oxford focusing on myology, mitochondrial disorders and SMA. During this time, my enthusiasm for learning about muscle and mitochondrial disorders grew and these remain areas of particular interest to me. I completed my training as an adult neurologist a couple of year ago, and since then have been working in the Oxford rare mitochondrial disorders service. I very much enjoy working with the patient, families and team in this service, and continue to learn a lot. 

Mitochondrial disorder - Cases and service

This presentation will give an overview of mitochondrial disorders with some example cases. It will start with some basics of what mitochondria are and their importance in the cells. It will then focus on clinical features, with a particular focus on when to suspect mitochondrial disease. The presentation will go on to discuss practical aspects regarding what to do if a mitochondrial disorder is suspected. The type of care provided by the highly specialised services will be discussed, and what is done in clinic including management and surveillance strategies. It will also touch on new treatments and reproductive options. The presentation will be given alongside the talk on genetics and diagnosis of mitochondrial disorders. There will be time for discussion and questions at the end.