Associate Professor, Department of Medical Genetics; Director, Clinical Genetics Unit, Alberta Children's Hospital
Alberta Children's Hospital
2888 Shaganappi Trail NW
Calgary, AB T3B 6A8
Clinical and molecular delineation of a novel autosomal recessive disorder
I have an ongoing interest in the clinical and molecular delineation of a novel autosomal recessive disorder (dilated cardiomyopathy, cerebellar ataxia and 3-methylglutaconic aciduria) which I described in our Hutterite population. Recent work has also focused on the genetics on childhood neurodevelopmental disorders including developmental coordination disorder and autism. A large prospective cohort study of women and children is being established to explore the relationship between maternal environment and nutrition on maternal and child mental health as well as neonatal and infant health including congenital anomalies. The establishment of the cohort as well as a biobank will provide amply opportunities to explore the relationship between the maternal environment and genes.