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 |
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 |
| Baljinder Salh/ Hugh Freeman |
Division of Gastroenterology- at UBC Hospital and Vancouver general hospital |
Illumina Sequencing |
Gastroenterology |
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 |
| 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 |
| Bill Gibson |
Department Medical Genetics, C&W |
Affymetrix Gene Chips SNP Array |
Metabolism - Obesity |
Characterization of genetic disorders of body weight |
| 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 |
| 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 |
| 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 |
| 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 |
| Michelle Demos |
Department Pediatric Neurology, C&W |
Agilent Oligonucleotide Array |
Pediatrics - Neurology |
Genomic changes in children with Idiopathic Epilepsy |
| 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 |
This page lists BCCGN members and the research studies they are conducting through the Network with the assistance of our technology and statistics advisors. 
