Overview

Dr. Lewis’ 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 and patient care in the clinic.

As an investigator and Clinical Professor in the Provincial Programme for Medical Genetics at BC Children’s Hospital and UBC, Chief Medical Officer & Vice President of Research at the Pacific Autism Family Network (PAFN) and Director of the BC Autism Spectrum Interdisciplinary Research (ASPIRE) Program, Dr. Lewis leads a collaborative team which has discovered several new genomic (single nucleotide-/copy number-variant; SNV/CNV) syndromes and has described their detailed clinical phenotypes. Examples include newly recognized ASD/ID syndromes involving genes integral to 1q21, 2p15.1-16, 5p15.2, 7q11.2, 15q11-q13, 16p11.2, 18p12 and Xp11.2. International collaborative work also led to identifying the now important Aristaless (ARX) gene as the disease-specific gene causing childhood myoclonic epilepsy and X-linked Intellectual Disability (XLID; West Syndrome), accounting for ~10% of all XLID globally (Nature Genetics, April, 2002).

Dr. Lewis is Director of the UBC-based iTARGET (individualized Treatments for Autism Recovery using Genetic and Environmental Targets) Project, and in partnership with Genome BC, Autism Speaks, the BC Genome Sciences Center and the Toronto Hospital for Sick Children, her team’s descriptions of clinical (phenome) and biological (genome, metabolome, microbiome, proteome and exposome) associations with the symptom-based diagnosis of autism have delineated its many different forms due to its many different causes; hence more appropriately defining a precision medicine approach to understanding “The Autisms”. Such work has advanced innovative endophenotyping approaches including 3D craniofacial digital imaging to delineate atypical face-brain asymmetry – now recognized as an etiologically informative subtype of ASDs since publication of this seminal work [Molecular Psychiatry 2008 [June]: 13(6):614-623De]. Lewis’ contributions to the autism community have been recognized through a CIHR Clinician Investigator Award, Career Clinician Scholar Award from the Michael Smith Foundation for Health Research (MSFHR) and a B.C. Children’s Hospital Research Institute Investigator Grant Award (IGAP).

As a Principal Investigator (PI) on many grants , Dr. Lewis has helped lead and secure major research funding through the CIHR, MSFHR, BCCHRI, Genome BC, Vancouver Foundation, US Dept. of Defense Autism Research Program, Autism Speaks, BC Knowledge Development Fund, the Canadian Foundation for Innovation, and Federal Treasury Board, raising collectively over $27M to bolster interdisciplinary autism training, research, knowledge exchange and translation to personalized health applications.

Publications

Blood Mitochondrial DNA Content in HIV-Exposed Uninfected Children with Autism Spectrum Disorder
Viruses
DOI: 10.3390/v10020077
02/2018

Research

Current Projects
The work of the BC ASPIRE Program continues to cultivate a 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 conditions. What is generally referred to as autism is likely a group of characteristic symptoms associated with many different underlying disorders, seen in many different forms. A personalized medicine approach is particularly promising for ASD because we see such a huge amount of variability in autism, in terms of the symptoms, causes and outcomes. Instead of treating the symptoms of “autism,” it is importantto treat what is causing each patient’s individual condition with targeted therapies.

It is only through interdisciplinary collaboration and excellence in research, both clinical and basic science, that transformative means for early diagnosis, stratified personal treatments, optimal health and quality of life for individuals and families living with autism can be achieved.

Current research projects include:

1. iTARGET [Individualized Treatments for Autism Recovery using Genetic-Environment Targets], initiated in 2017, is beginning to inform earlier, more accurate diagnoses and is enabling personalized treatments for behavioural and bio-medical therapies, which hold tremendous promise for the development of effective medical treatments for ASD.
2. A comprehensive approach for identifying genes for complex genetic disorders: Autism spectrum disorders and beyond (CFI-LEF funded to 2019).
3. The identification of susceptibility genes and phenotypic subgroups of autism spectrum disorders (ASDs); (BCCHR, MSFHR and CIHR funded).
4. Identifying phenomic co-morbidities of autism spectrum disorders and their genomic etiologies (CIHR, CFRI, MSFHR and Autism Speaks funded).
5. Medical, physical and biological endophenotypes of the autism spectrum disorders (CIHR and Autism Speaks funded).
6. A transdisciplinary inter-institute training program in Autism Spectrum Disorders (CIHR funded STIHR).
7. The epidemiology of ASDs in BC and Canada; A national epidemiologic database for the study of autism in Canada (NEDSAC) (CIHR funded).
8. Knowledge to action initiatives - AutismCONNECTS: Developing a virtual community for autism spectrum stakeholders (CIHR funded).
9. Improving the health of children with intellectual disabilities by early identification of genetic causes (CIHR funded).

Grants

iTARGET Autism - individualized Treatments for Autism Recovery using Genetic and Environmental Targets. Funded by Autism Speaks and the Hospital for Sick Children Foundation; $6M; ; 2017-2020. Co-PI’s S. Lewis and S. Scherer.

The Autism and Intellectual Disability (Knowledge) Exchange (AIDE) Network. Funded by the Federal Ministry of Health and the Public Health Agency of Canada; $10.9M (2018-2023); Co-PI’s: Pacific Autism Family Network (S.Cocchia, President/CEO; S.Lewis, VP Research/CMO) and the Miriam Foundation (W. Greenstone, ED).

Autism Community Connects: A Co-Design Web Platform to Facilitate the Uptake of Research Evidence by Families. Funded by The Michael Smith Foundation for Health Research; $10,000; 2018.

Honours & Awards

BCCHRI IGAP Investigator Award (2016-2021).

Michael Smith Foundation for Health Research Career Investigator Award – Clinician Scholar (2005 -2010).

CIHR Institute of Genetics CliniciCIHR Short Term Clinician Investigator Research Award – 2005.

CIHR Institute of Genetics Clinician Investigator Award – 2003-05.

Research Group Members

Wiebke Bartels, Research Assistant
Kristina Calli, ASPIRE/iTARGET Project Manager
Erin Casey, Volunteer
Jasleen Dhaliwal, Volunteer
Emma Guo, Volunteer
Amanda Lillico-Ouachour, Research Assistant
Heather MacRitchie, Genetic Counsellor
Melisa Mumbi Kimwere, Research Assistant
Simone Race, ASPIRE Clinic Manager
Sarah Redmond, Postdoctoral Fellow
Charu Sankar, Volunteer