

Our lab has two main areas of interest:

1) identifying genetic variations that impact health


Our lab works collaboratively with other teams here at Dalhousie and beyond.  Through these collaborations, we study a number of familial disorders to identify the underlying mutations responsible for rare genetic disorders.  This knowledge can help clinicians and patients understand the diseases and guide decision making in their care.  Further, the discovery of the underlying mutation is an important step in our search for treatments.  Working as part of a larger team, we use a combination of techniques including genotyping, genetic mapping, whole exome, whole genome, RNAseq, Sanger sequencing and Q-RT-PCR to identify the underlying genetic mutations.

Our lab also uses human cell culture models to study the impact of genetic variation on the function of particular genes.  We use patient derived cells (usually B-lymphocytes) and well-established cell lines where we introduce genetic information.  These tools allow us to study the impact of genetic variation on cellular function.  By defining quantifiable differences between healthy cells versus cells with the mutation, we gain an understanding of the disease, and create a tool that we can use to begin the search for treatments.