Exome sequencing and the management of neurometabolic disorders” , download article here

The metabolic evaluation of the child with an intellectual developmental disorder: Diagnostic algorithm for identification of treatable causes and new digital resource, download article here.


Who I Am
My name is Marion Thomas. My first career was in equestrian sports where, for many years, I competed at the National and International level three-day eventing. After many years of successful competition, I turned my attention to academics and science, receiving a PhD in Molecular and Cellular Cardiology from Simon Fraser University in 1996.
In December of 1998, I moved, with my husband, to Oslo, Norway, where I began my second postdoctoral fellowship in the Department of Anatomy, Faculty of Medicine, University of Oslo.
In 2002, my twins were born, while I was in my third year of my studies in Oslo. In 2004, contract completed, myself and my family moved back to Canada, where I worked as a laboratory manager in the Huntington Research Laboratory. After two years I became interested in the impact that academic research was having on clinical research so I transitioned into my current position as Senior Research Manager in the Department of Medical Genetics, Clinical Division.
I currently work in many different capacities assisting clinicians to conduct their research. This includes managing all aspects of the Rare Disease Foundation Microgrant program, organizing rounds for the Genetics & Health Cluster, and last but not least —being involved with the front-running TIDE Team.

What I do for TIDE
Initially, I was largely involved with ethics submissions for the many different TIDE research studies including the TIDEX ( the exome sequencing study) that has proved to be highly successful. As my role increased, I also became involved with organizing the TIDE Complex Diagnostic Clinic as well as conducting periodic literature searches for the group and assisting with various aspects of funding applications.

Special Accomplishments for Tide
I have been involved in the development of the highly successful TIDE Complex Diagnostic Clinic program and associated TIDEX research study, which has provided diagnoses and hope of a treatment if one does not exist, for many families who have children with rare genetic diseases.

Why Tide Makes A Difference
TIDE is special, and it’s because of the team members. We all work together with egos checked at the door, to help each other out, initiate new research techniques to diagnose difficult cases, and then translate this knowledge into improved outcomes and care for patients and their families. TIDE makes a direct link between research and care— they are indeed making a significant difference—they are not only making waves WE ARE moving mountains!

5 Things I Would Take With Me to A Deserted Island
I would take a book on the history of mankind including the evolution of politics and religion; seeds and a trowel to grow the most amazing garden of flowers and food. I would also take my cat Buffy and a boat in case I got bored.