1) exploring the genetic causes and understanding the clinical presentation of genetic conditions (Long QT Syndrome and Primary Biliary Cirrhosis, PBC) p revalent in BC First Nations; 2) exploring the determinants of early Inuit health and infant mortality; 3) understanding the effects of the environment and other determinants on birth outcomes in BC, Yukon, Alberta, and Nunavut.
The overall objective of my program of research is to use a clinical genetics perspective to inform the development of novel biological and non-biological interventions to improve outcomes for individuals with psychiatric disorders and to support their families.
Bioinformatics, sequence assembly, transcriptomics, gene regulation networks, high throughput informatics for big data. Birol Lab is located at British Columbia Cancer Agency, Genome Sciences Centre.
High throughput data analysis, data standards, flow cytomety, GvHD biomarker identification, cluster identification.
Genetics of human cancer susceptibility, particularly lymphoma, and genetics of healthy aging and longevity. Family and population-based genetics studies. We use techniques such as genotyping and exome and whole genome sequencing.
X chromosome inactivation. Gene regulation, chromatin modification, epigenetic silencing.
Ethical and social dimensions of genetic testing, knowledge, commercialization; democratizing the governance of genomics.
Characterization of the stem cell state and its control by comparative global gene expression and proteomics analyses.
Human pedigree and population genetics, and mouse modeling of neurodegenerative disease – designed to inform therapeutic development.
Clinical applications of genomic technology; birth defects epidemiology and clinical teratology; clinical studies of neurofibromatosis.
Mendelian disorders of body weight regulation and their relevance to common obesity and metabolic syndrome. Transgenic/knockout mice with perturbations of energy intake and energy expenditure. Weaver syndrome – mutation detection and new therapies. Clinical uses of next-generation sequencing for rare versions of common disease. Personalized Genomics.
Neurological mutant mice are used as entrees into studying the genetics, cell biology and development of genes that are critical to nervous system development.
Molecular biology of eukaryotic chromosome transmission, cancer therapeutics, model organism and human disease.
Mammalian development, Transcriptional regulation and epigenetics, Hepatocyte differentiation, Heart valve formation, Signal transduction, Transgenic/knockout mice, Whole genome profiling
Gene regulation, leukemic stem cell biology, basic and translational leukemia research, signal transduction, proteomics.
Bioinformatics, gene expression, gene regulation, genome sequence analysis and genome assembly.
Our research bridges the molecular mechanisms of epigenetic regulation with the social and environmental determinants of human health to develop a comprehensive understanding of biological embedding of early life experiences
Stem cells, developmental control, telomere biology, self-renewal and genetic instability.
Neurogenetics, Huntington disease and other triplet repeat disorders, transgenic/knockout mice, mouse models of human neurodegenerative disease, experimental therapeutics.
Interplay between transcription, DNA methylation and histone modifications in the germ line, early development and disease
Gene regulatory changes in malignancy, ribosomal variation in cancer, impact of transposable elements on mammalian genes.
Immunogenetics and Molecular Immunology. Cell surface proteins and Leishmania. Modulation of macrophage gene expression by M. tuberculosis.
The immune response to cancer; development of immunotherapies targeting the cancer genome.
Genetics and epigenetics related to fetal development and obstetrical complications of pregnancy such as fetal growth restriction, preterm birth, and birth defects. We use genomic and bioinformatic techniques to understand pathological processes related to placenta that affect the fetus and newborn.
Dr. Sadovnick’s current research focuses on multiple sclerosis with particular emphasis on reproduction and child/maternal health. She is also involved in family-based genetic studies and early onset familial Alzheimer’s disease.
Gene-based therapies for diseases of the brain and eye, cell-type specific MiniPomoters for rAAV delivery of gene augmentation and genome editing (CRISPR/cas9) therapies to cure mouse models of the human disease.
Vesicle trafficking, lipid transport, yeast genetics, functional genomics, and mammalian cell biology.
Role of imprinted genes in mammalian development. Epigenetics of embryonic stem cells and germ cell lineage. Gene targeting.
Discovery of monogenic causes of human developmental or metabolic disorders; natural history of monogenic disorders; optimal management of mitochondrial disorders.
Proteomics, protein-protein interactions, protein isoform function, alternative splicing.
We study how transcriptional regulation affects metabolism and stress responses in C. elegans (worm), mice, and mammalian cells, to identify mechanisms that can be targeted in diseases such as cancers, diabetes, and neurodegenerative disorders.
Computational biology, regulatory networks, genetics of complex traits, psychiatric genetics, machine learning in computational biology, genomics.
1) Scope and impact of germline findings identified in next generation sequencing and the use of these technologies in oncology; 2) molecular diagnosis and characterization of hereditary cancer syndromes
Genome maintenance, DNA repair, RNA processing, DNA replication stress, Chromatin Remodelling, Stress responses, Protein quality control, Genotoxins, Saccharomyces cerevisiae, Mutation Signatures.
We implement second generation sequencing technologies for the identification of mutations causing highly prevalent neurological diseases, with primary focus on multiple sclerosis, and characterize new models of human disease based on these discoveries for the development of novel and more effective treatments.
Genetic, genomic and comprehensive phenotyping studies for the autism spectrum disorders, idiopathic intellectual disabilities and other complex disorders of neurodevelopmental and/or behavioral disability.
Application of the Translational Care model to deliver care-focused research results more rapidly. Application of high throughput technologies such as genomics, metagenomics and other platform biology approaches to find molecular entry points to study a variety of rare diseases. Areas of interest include bone biology, preterm birth and eye diseases.
Caring for people with (or with increased chance of) genetic differences, with a concentration on those that predispose to tumours or differences in sexual development. Clinical research projects that complement patient care. Educational leadership and faculty development.
Clinical and epidemiological studies in neurofibromatosis. Research on best practices to facilitate families’ information access and decision-making re genome-wide sequencing. Out-of-pocket costs to families to raise children with developmental and intellectual challenges.
Studying inherited human disorders to understand human development, behaviour, physiology and degeneration. Emphasis on neurological, neuromuscular, and psychiatric diseases. The objective is to improve patient care.
Research interests relate to the many ethical and social issues inherent within clinical practice and research in genetic and genomic medicine including: direct to consumer genetic testing; incidental/ secondary findings; and biobanks.
We are developing and using leading edge methods in single cell biology and single cell genomics, in conjunction with statistics and computational biology, to understand the origins of cancer and cancer drug resistance in patients and model systems.
Chromosomal etiology of intellectual disability/autism and cancer, Molecular cytogenetics, Identification of subtle chromosomal abnormalities using whole genome arrays
Telomere and telomerase biology, inherited bone marrow failure syndromes, X-linked inheritance, cancer risk and therapeutics.