Overview

I am a medical geneticist, and my research bridges clinical genetics and basic science. Our work is focused in three major areas:

Application of advanced genomic technology to identifying the causes of mental retardation;

Using genetic epidemiology - statistical analysis of large collections of clinical and genetic data and various other methods - to understand the disease processes in people with neurofibromatosis 1, a common genetic condition that leads to the development of benign and malignant tumours, cardiovascular disease and osteoporosis; and

Development and dissemination of authoritative information on human teratogenic risks (risks to embryonic or fetal development) resulting from maternal treatment with various medications during pregnancy.

Research

Current Project
Prescription medications are not tested for safety in human pregnancy before they are approved for marketing, and the passive adverse event reporting schemes required after regulatory approval have proven to be inefficient means of identifying maternal drug treatments that can harm the embryo or fetus. As a consequence, the average time required to recognize that a newly marketed drug can harm the developing embryo or fetus is more than 7 years, and the fetal risk or safety of more than 90% of prescription drugs approved for clinical use since 1980 is unknown. We are doing studies of various maternal treatments during pregnancy and birth defect risk in the children using data from a large US study in collaboration with the Centers for Disease Control and Prevention in Atlanta, GA.

Current Projects
People with neurofibromatosis 1 often develop large numbers of benign tumours throughout their bodies, and some of these tumours may become malignant. Debilitating skeletal abnormalities and a characteristic vascular disorder, which may cause stroke, heart disease, or death in early adulthood, may also occur. We are conducting clinical, epidemiological and laboratory studies of these and other manifestations of neurofibromatosis to determine their frequency, natural history, and pathogenesis in affected patients.

Current Project
For 50 years, we have known that chromosomal abnormalities, which produce gain or loss of genomic material, are a major cause of mental retardation. Recent studies have shown that mental retardation in some children is caused by genomic imbalance that is much too small to detect by conventional chromosomal analysis. We are using newly developed technologies such as array genomic hybridization and high-throughput DNA sequencing to identify, characterize and understand the clinical consequences of the genomic alterations that cause at least 25% of all mental retardation.

Honours & Awards

Fellow of the Canadian Academy of Health Sciences

2012 Distinguished Medical Research Lecturer Award, Faculty of Medicine, University of British Columbia

UBC Killam Teaching Award – Faculty of Medicine, 2010

Research Group Members

Shelin Adam, Investigator and Research Genetic Counsellor, BC Children's Hospital
Hilal Al Shekaili, PhD Candidate
Sura Alwan, Bilingual Arabic-speaking Research Coordinator
Indhu Shree Rajan Babu, Postdoctoral Research Fellow
Patricia Birch, Investigator, Research Manager and Research Nurse, BC Children's Hospital
Megan Chan, Student
Madeline Couse, Bioinformatician
Sarah Dada, Rotation Student
Nicolas Dragojlovic, Research Associate
Colleen Guimond, Genetic Counsellor
Julia Handra, Research Assistant
Axel Hauduc, Graduate Rotation Student
Elisa Lau, Undergrad Academic Asst
Jacqueline Li, Graduate Research Assistant
Nicole Liang, Research Assistant
Liza Mak, Administrative Coordinator
Andrew Nguyen, Medical Student
Jasmine Peng, Research Assistant
Anastasia Richardson, Program Manager
Kamran Shabbir, International visiting trainee - doctoral student:Trainee
Sophia Shen, FLEX Student
Simya Surani, Project Assistant
Christele du Souich, Investigator, BC Children's Hospital