Preferred method of communication
Research and teaching
My research interests focus primarily on the clinical and molecular delineation of novel genetic conditions. The majority of the conditions have significant central nervous system involvement. In collaboration with a number of clinicians and laboratory scientists across the prairies and throughout North America, research projects include:
- Clinical Genetics of Isolated Populations - the clinical characterization of known and previously unreported Mendelian (usually autosomal recessive) conditions in Hutterite and Mennonite populations. Due to founder effect, we assume a common founder for these rare disorders and can take advantage of the approach of homosygosity mapping to attempt to identify the genes responsible for these conditions. Long term goals are to provide options to families for carrier and diagnostic testing. Examples of conditions we have mapped and are working on identifying the genes include a variant of Joubert syndrome (associated with cerebellar hypoplasia), a novel disorder associated with Cerebellar Atrophy and Short Stature (CASS) and a variety of conditions associated with microcephaly.
- Human ciliopathies - the molecular basis of a variety of conditions now grouped together as "ciliopathies" which share common features including brain, kidney, limb and ocular anomalies. These conditions include Meckel syndrome, Joubert syndrome, Juvenile nephronophthisis, Bardet-Biedl syndrome and Cranioectodermal Dysplasia.
- Neurological phenotypes - the genetic basis of brain malformations including polymicrogyria. Further, using rare Mendelian pedigrees we are trying to uncover the underlying basis of common "complex" neurologic traits including Chiari 1 malformation and trigeminal neuralgia.