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 |