Research

Researchers

This page lists BCCGN members and the research studies they are conducting through the Network with the assistance of our technology and statistics advisors.

Clinician(s)	Affiliation	Technology	Application	Study
Christin Fabriel Leclerc	Family Physician, Mackenzie	Illumina SNP Genotyping	Adverse Drug Reaction	Study of Stevens-Johnson Syndrome as an Adverse Drug Reaction of Epilespsy Drug Lamotrigine
Liam Brunham	Centre for Molecular Medicine and Therapeutics / Cardiology, SPH	Sanger Sequencing Platform	Cardiology	Identification of Novel Genes that Impact HDL Cholesterol Levels
Jamil Bashir; Liam Brunham	Division of Cardiac Surgery, SPH	Illumina SNP Genotyping	Cardiology	Role of MMP9 in Atrial Fibrillation
Harinder Gill; George Sandor	Departments of Medical Genetics, and Cardiology C&W	NimbleGen Whole Genome MicroArray	Cardiology	Sub microscopic chromosomal causes of Left-Sided Congenital Heart Defects
Dan Metzger	Department of Endocrinology, C&W	IlluminaHiSeq 2000	Endocrinology	Genetics of Female to Male Gender Identity Disorder (GID)
Baljinder Salh/ Hugh Freeman	Division of Gastroenterology at UBC Hospital and Vancouver General Hospital	Illumina Sequencing	Gastro-enterology	Metagenomics in Crohn's Disease: A Pilot Study
Kirsten Meagher	Genetic Counsellor, C&W	NimbleGen Whole Genome MicroArray	Genetics	De novo CNV's in adults with MR
Michelle Steinraths	Vancouver Island Medical Genetics	Array Comparative Genomic Hybridization	Genetics	Assessment of a translocation in a patient with renal angiomyolipomas
Isabel Filges	Department of Medical Genetics, C&W	IlluminaHiSeq 2000	Genetics	Novel Genetic Causes of Bilateral Renal Agenesis
Millan Patel	Department Medical Genetics, C&W	Illumina Sequencing	Infectious Diseases	Identification of possible viral or bacterial causes of gastroschisis
Richard Moore; Rob Holt	Genome Sciences Centre	Illumina Genome Analyser	Infectious Diseases	Detection of infectious agent expression in human samples
Robert Offer	Penticton	To be Determined	Internal Medicine	Familial premature osteo arthritis of the hands and other joints
Sylvia Stockler; Clara van Karnebeek	Division of Biochemical Diseases, C&W	Illumina Sequencing	Metabolism - Intellectual Disability	Treatable inborn errors of metabolism causing intellectual disability and epilepsy
Bill Gibson	Department Medical Genetics, C&W	Affymetrix Gene Chips SNP Array	Metabolism - Obesity	Characterization of genetic disorders of body weight
Rosemarie Rupps; Neal Boerkoel	Department Medical Genetics, C&W	Affymetrix Gene Chip SNP Array	Neurology - Ataxia	Autosomal recessive ataxia with neurodegenerative disorder in two sisters
Viera Saly	Neurologist, Victoria	To Be Determined	Neurology - CADASIL	Epigenetics of CADASIL
Helen Tremlett	Neurology, Department of Medicine, UBC	Illumina SNP Genotyping	Neurology - MS	Genotype specific approaches to therapy in Multiple Sclerosis
Colin Ross	CMMT	Illumina SNP Genotyping	Oncology - Adverse Drug Reactions	Identification of pharmacogenetic markers of severe cisplatin toxicities in adult patients living with cancer
Aly Karsan	Department of Diagnostic Genomics, BC Cancer Agency	Illumina Sequencing	Oncology - Gastro-intestinal	Genomic analysis applied to GI Cancers
David Huntsman	BC Cancer Agency	Statistical analysis (penetrance study)	Oncology - Hereditary Cancer	Study of 70 hereditary gastric & breast cancer families
Jacob Rozmus	Department of Pediatrics, C&W	Illumina	Oncology, Hematology, & Blood & Bone Marrow Transplant	The use of whole exome sequencing to determine causative genetic mutations in patients with undiagnosed bone marrow failure and immune deficiencies
Wendy Robinson; Deborah E McFadden	CMMT	Illumina Infinium Methylation Arrays	Pathology (Obstetrics)	Epigenetic Alterations in Pregnancies with Neural Tube Defects and Trisomy 21
Patrick MacLeod	Geneticist, VIHA, Vancouver Island	NimbleGen Whole Genome MicroArray	Pediatrics - Development	Mechanism of inheritance of a new distal arthrogryposis & mental retardation syndrome
Anna Lehman; Linlea Armstrong	Department Medical Genetics, C&W	Affymetrix Gene Chip SNP Array	Pediatrics - Development	Investigating a genetic cause of Cornelia De Lange Syndrome
Neal Boerkoel	Department of Medical Genetics, C&W	Affymetrix Gene Chip SNP Array	Pediatrics - Development	Can a chromosomal balanced translocation lead to developmental delay
Farah Zahir; Jan Friedman	Department Medical Genetics, C&W	Sanger Sequencing Platform	Pediatrics - Development	Identification of the mechanism for a deletion causing mental retardation
Christele du Souich	Department Medical Genetics, C&W	Array Comparative Genomic Hybridization	Pediatrics - Development	Investigation of an inheritance mechanism for developmental delay and dysmorphic features in a family
Anna Lehman	Department Medical Genetics, C&W	Affymetrix Gene Chip SNP Array	Pediatrics - Development	An overgrowth disorder with severe language impairment associated with a maternally inherited duplication
Michelle Demos	Department Pediatric Neurology, C&W	Agilent Oligonucleotide Array	Pediatrics - Neurology	Genomic changes in children with Idiopathic Epilepsy
Gabriela Horvath	Departments of Pediatrics, Biochemical, Neurology Diseases, C&W	Illumina SNP Genotyping	Pediatrics- Neurology and Development	Identification of the gene responsible for CAPOS syndrome
Rosemarie Rupps/Neal Boerkoel	Department Medical Genetics, C&W	Illumina SNP Genotyping	Pediatrics- Psychiatry	Identifying the gene for Obsessive-Compulsive Disorder and related psychiatric features in an AD family
James Hogg	i-Capture	Metagenomic sequencing, Illumina	Pulmonary Disease	Sequencing study of bacterial infection of COPD
Pascal Lavoie	Department Neonatology, C&W	Illumina SNP Genotyping	Respiratory, Immunology & Neonatology	Genetic markers in children who develop Bronchopulmonary Dysplasia

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