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.
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.
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.
Chromatin, protein complexes, genome integrity, DNA replication and DNA microarrays.
Neurogenetics, Huntington disease and other triplet repeat disorders, transgenic/knockout mice, mouse models of human neurodegenerative disease, experimental therapeutics.
Gene regulatory changes in malignancy, impact of transposable elements on mammalian genes, role of DNA methylation/epigenetics in gene expression.
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 of human reproduction. Environmental effects on genes affecting placental function and fetal development. Epigenomics related to preeclampsia, intrauterine growth restriction, birth defects and early child development.
C. elegans genetics, meiosis, metaphase-anaphase checkpoint, recombination, nondisjunction, pathogenomics.
Focusing on establishing Canada-wide and British Columbia’s and clinical and epidemiological genetic databases for Multiple Sclerosis and Alzheimer Clinics. These databases are used for clinical genetic, genetic epidemiological and molecular genetic research and have a direct impact on genetic and reproductive counselling.
Multidisciplinary; Genetics, Genomics, Neurosciences, and Gene Therapy. Human studies, mouse transgenic models, brain and eye disease, bipolar disorder and aniridia. Gene expression, transcription factors, Nuclear Receptor 2E1, stem/progenitor cells, neurogenesis, behaviour.
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.
Vesicle trafficking, lipid transport, yeast genetics, functional genomics, and mammalian cell biology.
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.
Role of imprinted genes in mammalian development. Epigenetics of embryonic stem cells and germ cell lineage. Gene targeting.
Interplay between transcription, DNA methylation and histone modifications in embryonic stem cells and tumorigenesis.
Proteomics, protein-protein interactions, protein isoform function, alternative splicing.
Computational biology, regulatory networks, genetics of complex traits, psychiatric genetics, machine learning in computational biology, genomics.
Role of genome instability in oncogenesis and cancer treatment. Using functional genomics, molecular and cell biology of yeast and mammalian cell culture to identify mechanisms of genome maintenance, in particular as they pertain to cancer.
Gene regulation, transcription, regulatory complexes, and Hormone Receptors related to lipid metabolism, stress responses, and development in C. elegans and mammalian cells.
My research is focused on the identification of the molecular components implicated in highly prevalent neurological diseases; including multiple sclerosis and essential tremor by utilizing the characterization of multi-incident families and large multi-ethnic populations from around the globe.
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.
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.
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.
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.
In addition to teaching and curriculum design, Jenna’s research interests include genetic counselling service provision models including exploration of group counselling and videoconferencing modalities, as well as the process changes needed to effectively incorporate multiplex genetic testing into hereditary cancer genetic counselling. In addition, Jenna has explored medical and psychosocial issues related to hereditary cancer risk and treatment.
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.
Using the latest next-generation sequencing technology and bioinformatics methods to sequence and analyse the genomes and transcriptomes of human breast cancers.
Genetic control and manipulation of hemopoiesis. Stem Cell Regulation. Retroviral Gene Transfer. Transgenic Mice.
Stem cells, developmental control, telomere biology, self-renewal and genetic instability.
Chromosomal etiology of intellectual disability/autism and cancer, Molecular cytogenetics, Identification of subtle chromosomal abnormalities using whole genome arrays