11183910_sThis 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