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
I am a geneticist who combines knowledge and training in biochemistry, medical genetics, cell biology, bioinformatics, arts and teaching to accelerate discovery of new pathogenic variants of known and unknown genes that lead to disease, using whole exome sequencing (WES) and whole genome sequencing (WGS) methods.

What I do for TIDE
I am leading Wasserman’s group in applied genome analysis efforts to develop efficient methods with which to utilize next generation sequencing (NGS) advances and facilitate their translation into clinical practice. As a member of TIDE’s computational research team, we have successfully established a computational pipeline for high throughput processing of sequencing data, variant calls, variant prioritization and optimal delivery of visual and understandable candidate variant lists for clinicians. Currently, using this pipeline in our trio-based analysis (father-mother-child), we are able to process raw fastq sequencing files and deliver an annotated list of variants to clinicians in 1-2 days (8-16 hours).

Special accomplishments for TIDE
At TIDE, we work as a family to combine our strengths for timely diagnosis of rare genetic diseases. We work around the clock with hopes of discovering new/optimal treatments thereby improving lives of patients and their families at BCCH and beyond.
Who I Am
I am a fine art photographer based out of Vancouver. I specialize in photographing lifestyle, fashion, weddings and commercial projects.

What I do for TIDE
I photograph children and families involved in the TIDE program, in part to document the children’s progress, and to give the families the opportunity to have photos taken together.

Why Photographing the Families Makes A Difference
I believe that in my small way, I can give the families a gift. It can be a difficult time for the families of a child suffering from a rare disease, like the children we see at the TIDE clinic. But the families are always so appreciative of having photos of them all together.

5 Things I Would Take With Me To A Deserted Island
• Sun hat
• Good book
• Surfboard
• The love of my life
• Good bottle of wine

Visit Melissa's website 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.