Anne Bowcock, PhD
- PROFESSOR | Oncological Sciences
- PROFESSOR | Dermatology
- PROFESSOR | Genetics and Genomic Sciences
Research Topics:Angiogenesis, Anti-Tumor Therapy, Antigen Presentation, Apoptosis/Cell Death, Autoimmunity, Bioinformatics, Bone Biology, Breast Cancer, Cancer, Cancer Genetics, Cartilage Biology, Cellular Differentiation, Cellular Immunity, Chemokines, Chromatin, Computational Biology, Dendritic Cells, Differentiation, Eczema, Endothelial Cells, Epigenetics, Epigenomics, Epithelial Cells, Gap Junctions, Genetics, Genomics, Human Genetics and Genetic Disorders, Inflammation, Interferon, Knockout Mice, Metastasis, Microarray, Ophthalmology, Post-Transcriptional Processing, RNA, RNA Splicing & Processing, Retina, Retrovirus, Skin Cancer, T Cells, Tolerance, Transgenic Mice, Translation, Tumor Suppressor Genes, Tumorigenesis, Wound Healing
PhD, University of the Witwatersrand
American Skin Association 2005 Psoriasis Achievement Award
We investigate the genetics and genomics of psoriasis and psoriatic arthritis and ways of combatting their effects. We have profiled the psoriasis transcriptome and identified the majority of small RNAs (microRNAs and others) operating in healthy and diseased skin. We continue to investigate the roles of these small RNAs and their cellular targets. We also identified a gene mutated in a familial form of psoriasis and psoriatic arthritis (CARD14) and determined the functional consequence of its psoriasis causing mutations. We are now generating murine models of the mutations to help in understanding how CARD14 mutations lead to disease. We are also using this mouse model to examine the effects of novel therapeutics for psoriasis and psoriatic arthritis. To identify additional common and rare variants predisposing to psoriasis we are exome sequencing unrelated patients, and are also searching for the common (GWAS identified) risk factors through genomic/epigenomic analyses of key cell types involved in disease pathogenesis. With respect to cancer, we are investigating the molecular basis of a number of adult cancers including uveal melanoma, acral melanoma, mesothelioma and thymic epithelial cancers. This involves exome and genome sequencing, RNA sequencing and a search for novel gene fusions, and an investigation of tumor heterogeneity and evolution. We were the first to identify the major genetic drivers of uveal melanoma (BAP1 and SF3B1) and are currently investigating their role in tumorigenesis and metastasis.