Overview

Intellectual disability (ID) and medical illness seen in some children is due to treatable genetic conditions known as inborn errors of metabolism. Many of these can be treated with diet or drugs. As a Co-Lead Investigator of the TIDEX (Treatable Intellectual Disability Program - Exome Sequencing) program at the CFRI, our group aims to describe new inborn errors of metabolism by specifically targeting and identifying patients with these classes of metabolic genetic diseases as we anticipate these children will be highly amenable to treatment. This program, lead by Dr. Clara van Karnebeek has been incredibly successful to date. Via the use of a leading-edge tests combined with bioinformatics tools known as "whole exome sequencing" (WES), the multidisciplinary TIDEX team has identified several patients who have gone on to have life-saving treatment. TIDEX work is ongoing, changing the approach to diagnosis in BC, one rare disorder and incredible life at a time.

Defining the genetic cause of human primary immunodeficiency disorders can also be lifesaving for affected patients, and provides the unique opportunity to study the impact of specific genes on the development and regulation of the human immune system. Gene discovery and phenotypic characterization of novel immune dysregulation and immune deficiency disorders has been another key area of my clinical and research focus. Along with Pediatric Immunologist Dr. Stuart Turvey and others at the CFRI, we were the first to characterize a novel disorder on the JAK/STAT pathway, and have shown successful stem cell transplant in human MALT1 deficiency. We aim to further characterize other disorders along the NF-kappa-B and JAK/STAT pathways and other rare primary immunodeficiency disorders. We are certain of success given the wealth of support and knowledge present at our centre and core initiatives established at the CFRI. There are tremendous possibilities for treatment and cure in these patients.

As a clinician, I work as part of a multidisciplinary team with other Medical Geneticists, Genetic Counsellors and health-care professionals caring for children, women in pregnancy and families through the British Columbia Provincial Medical Genetics Programme. Our service is a busy, provincial program that sees approximately 3000 families per year as outpatient, inpatient and outreach consultations. Patients are seen with a wide variety of prenatal, paediatric, and adult conditions. There is close affiliation with both diagnostic and research laboratories. My clinical interests include a focused interest in immune deficiency disorders, particularly those that present with severe atopic dermatitis, genodermatoses (genetic skin diseases) and vascular anomalies.

As a Clinical Educator within the Department of Medical Genetics (http://medgen.med.ubc.ca/clinical-genetics), I am committed to fostering the education and professional development of the residents, fellows and students training in our multidisciplinary clinical education programs.

Research

Current Project
My recent work in the world of vascular anomalies, with fellow clinicians in the multidisciplinary Vascular Anomalies Clinic (VAC) at BC Children's Hospital, has centered on the phenotypic and molecular characterization of patients within the spectrum of the PIK3CA-overgrowth disorders. Additionally, in concert with collaborators at the BC Cancer Agency, we are working towards molecular characterization of rare vascular anomalies (such as spindle cell hemangioma and mixed lymphatic anomalies).

Current Project
In human primary immunodeficiency disorders, we aim to further characterize other disorders along the NF-kappa-B and JAK/STAT pathways and other rare primary immunodeficiency disorders. We are certain of success given the wealth of support and knowledge present at our centre and through multiple CFRI Initiatives. There are tremendous possibilities for treatment and cure in these patients.

Current Projects
TIDEX work is ongoing, changing the approach to diagnosis in BC, one rare disorder and incredible life at a time.