Associate Professor, Department of Medical Genetics; Director, Cytogenetics Laboratory, Alberta Children's Hospital
Room B0-152, Alberta Children's Hospital
2888 Shaganappi Trail, NW
Calgary, AB T3B 6A8
Clinical human cytogenetics
Teaching and evaluation of learning
I am currently involved in three projects which are funded by the Alberta Children's Hospital Foundation:
1. Molecular cytogenetic characterization of apparently balanced chromosomal rearrangements in children with phenotypic abnormalities (principle investigator)
2. Characterization of a contiguous gene deletion syndrome associated with childhood-onset obesity and learning difficulties (co-investigator)
3. Array CGH Characterization of a Group of Patients with 4q Deletion Syndrome (principle investigator).
Although my laboratory is primarily diagnostic, the Cytogenetics Laboratory at ACH receives nearly 3000 specimens/year and provides a considerable reservoir of interesting potential subjects for study. Indications for suspected chromosomal abnormality include developmental delay, mental retardation (MR), congenital anomalies, abnormal growth, dysmorphism, delayed puberty, and recurrent miscarriages. Cytogenetic analysis by G-banding (karyotyping) is an important diagnostic tool. However it is limited in diagnostic resolution by the size of the chromosome segments involved and the difficulty in characterizing some chromosome alterations with indistinct banding patterns. Clinically significant cytogenetic aberrations below the resolution of conventional karyotyping are important to identify, as a specific diagnosis can be provided to the patient and family, and the natural history of the condition anticipated. Employing new molecular cytogenetic methods for the identification of an underlying genetic anomaly will improve diagnosis and genetic counselling for specific patients and contribute to a general understanding of the correlation between phenotype and genotype.
I hope to collaborate with researchers interested in specific developmental problems or congenital anomalies in children, as well as researchers interested in causes of infertility.