My dedication to clinical genetics patient care has nurtured my long-standing interest in somatic and behavioral phenotype patterning, and their respective relationship to the genetic basis of autism spectrum and related neurodevelopmental conditions. Examples include collaborative work identifying the Aristaless (ARX) gene) as the disease-specific locus contributing to childhood myoclonic epilepsy and X-linked Mental Retardation (XLMR; West Syndrome), now estimated to account for ~10% of all XLMR cases (Nature Genetics, April, 2002).
As Co-Director of the Autism Spectrum Disorders-Canadian American Research Consortium (ASD-CARC) and Leader of the BC Autism Spectrum Interdisciplinary Research (ASPIRE) Program, we have uncovered several new genomic findings and their clinical correlates involving 5p15.2, 15q11-q13 and newly recognized ASD/ID microdeletion syndromes involving 2p15.1-16 and Xp11.2. The description of clinical and biological correlates of ASD, including those harbouring submicroscopic deletions and duplications, has advanced novel endophenotyping approaches such as 3D craniofacial imaging to delineate atypical face-brain asymmetry – now recognized as an etiologically informative endophenotype of ASDs since publication of our team’s seminal work [Molecular Psychiatry 2008 [June]: 13(6):614-623.
My clinical research interests are founded and strengthened through longstanding multidisciplinary team engagement with colleagues locally, nationally and internationally in the characterization of novel clinical genetic and genomic syndromes contributing to autism spectrum and related neurodevelopmental disorders. This work underscores the significant value of discovering new knowledge learned via the two-way translation of work between the laboratory bench and patient care in the clinic.
The work of the BC ASPIRE Program continues to cultivate this two-way translational framework for further contributing to genetic knowledge underlying the identification, understanding and treatment of childhood and adult neurodevelopmental disabilities, with a focus on autism and related neurodevelopmental disorders. Current research projects include:
A comprehensive approach for identifying genes for complex genetic disorders: Autism spectrum disorders and beyond (CFI-LEF funded)
The identification of susceptibility genes and phenotypic subgroups of autism spectrum disorders (ASDs); (BCCHR, MSFHR and CIHR funded)
Identifying phenomic co-morbidities of autism spectrum disorders and their genomic etiologies (CIHR, CFRI, MSFHR and Autism Speaks funded)
Medical, physical and biological endophenotypes of the autism spectrum disorders (CIHR and Autism Speaks funded)
A transdisciplinary inter-institute training program in Autism Spectrum Disorders (CIHR funded STIHR)
The epidemiology of ASDs in BC and Canada; A national epidemiologic database for the study of autism in Canada (NEDSAC) (CIHR funded)
Knowledge to action initiatives - AutismCONNECTS (www.AutismCONNECTS.ca): Developing a virtual community for autism spectrum stakeholders (CIHR funded)
Improving the health of children with intellectual disabilities by early identification of genetic causes (CIHR funded)Honours & Awards
Michael Smith Foundation for Health Research Career Investigator Award – Clinician Scholar
CIHR Short Term Clinician Investigator Research Award – 2005
CIHR Institute of Genetics Clinician Investigator Award – 2003-05Research Group Members
Simone Race, ASPIRE Clinic Manager
Melisa Mumbi Kimwere
Emma Guo, Research Assistant
Kristina Calli, ASPIRE/iTARGET Project Manager