Research Interests

My laboratory studies the genetic and pathophysiology of human diseases that have defects in neurotransmission and synaptogenesis.  A long time focus of our studies have been the group of vision disorders call congenital stationary night blindness (CSNB).  These studies lead to the discovery of two genes (CACNA1F and NYX) that are mutant in different clinical entities of X-linked CSNB.  Ongoing research aims to define the spectrum of mutations in CSNB, search for the genes for autosomal recessive forms of CSNB, define the genetic basis of the clinical variability observed among patients with CSNB, and use models to investigate the pathophysiology of CSNB.  Another goal of our research is to develop targeted therapeutic strategies for retinal neurotransmission diseases.  In related studies, we are investigating the genetics of other human conditions which involve neuro-synaptic defects such as depression, and learning and memory. 

 

  

 

Research Funding

Canadian Institute of Health Research (CIHR): "CIHR Training Program in Genetics, Child Development and Health" 2002 - 2009.

Foundation Fighting Blindness - Canada - Genetic and molecular studies of CSNB2 in man and mouse. 2006 - 2010