Christel Tran in Toronto

What is your professional background?

I initially received training in internal medicine, but very quickly developed an interest in metabolism, that huge and complex set of chemical transformations that takes place in the body. After meeting different people, including Michel Roulet from the Clinical Nutrition Unit and Luisa Bonafé at the Molecular Paediatrics Division, I decided to study inborn errors of metabolism.

What are those?

They are genetic diseases in which one or more enzymes does not function properly in the metabolic process. They are rare, since in most cases the “defective” gene must be inherited from both parents for the disease to develop. Each case is different, but disorders break down into three main types: those affecting energy metabolism, the metabolism of small molecules such as proteins found in food and the metabolism of macromolecules.

And where did that training lead you?

First to Geneva, where I took the programme specialised in Endocrinology-Diabetology with Professor Jacques Philippe, then to Toronto at the Hospital for Sick Children. This centre has the dual advantage of a strong reputation and a lot of patients. I stayed there for two years. The experience quickly became both a professional and personal challenge, as I hadn’t examined children since medical school, not to mention the language barrier and cultural differences. But today I can reap all the benefits
of what I learnt there.

Why did adult consultations only open last year?

Because until recently, the outcome was often fatal for children suffering from these diseases. But thanks to scientific advances and the outstanding collaboration between the different units – especially paediatrics and the adult endocrinology-diabetology service – what used to be purely paediatric care for these patients has now evolved into a Centre for Molecular Diseases to treat both children and adults. We take care of about 50 adult patients, most of whom lead completely normal lives, with jobs and families.