Publications:273
Anne Bowcock, PhD
About Me
Anne Bowcock, PhD, is the Norman Orentreich, MD Professor of Dermatology Research at the Icahn School of Medicine at Mount Sinai, and is also Professor, Oncological Sciences, and Genetics and Genomic Sciences.
Before joining Mount Sinai in 2017, Dr. Bowcock served as Professor and Chair in Cancer Genomics at the National Heart and Lung Institute, Imperial College London. Previous appointments include Washington University Medical Center in St. Louis, where she served as Joint Director of the Division of Human Genetics, and several research and academic positions at The University of Texas Southwestern Medical Center.
Her laboratory was the first to identify the genes (BAP1 and SF3B1) leading to tumor formation and metastasis of uveal melanoma. She also identified the first gene mutated in a familial form of psoriasis and psoriatic arthritis (CARD14) and determined the functional consequences of its psoriasis causing mutations. Her other research achievements include demonstrating the use of DNA markers in reconstructing human evolution, identifying proteins interacting with the early onset breast cancer gene BRCA1. She continues to work on the genetics and genomics of cancer and skin diseases including psoriasis and keloid formation.
Dr. Bowcock earned her PhD from the University of the Witwatersrand, Johannesburg, South Africa. During her tenure as a postdoctoral fellow in the Department of Genetics at Stanford University, she played a role in mapping loci for cystic fibrosis and Wilson’s disease and used DNA markers to examine the relationship of human populations.
Dr. Bowcock has received numerous awards in recognition of her research, including a Psoriasis Achievement Award from the American Skin Association. She is the inventor of two patents and has published more than 240 scientific papers, books, and book chapters.
Language
Position
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
Multi-Disciplinary Training Areas
Cancer Biology [CAB], Genetics and Genomic Sciences [GGS]
About Me
Anne Bowcock, PhD, is the Norman Orentreich, MD Professor of Dermatology Research at the Icahn School of Medicine at Mount Sinai, and is also Professor, Oncological Sciences, and Genetics and Genomic Sciences.
Before joining Mount Sinai in 2017, Dr. Bowcock served as Professor and Chair in Cancer Genomics at the National Heart and Lung Institute, Imperial College London. Previous appointments include Washington University Medical Center in St. Louis, where she served as Joint Director of the Division of Human Genetics, and several research and academic positions at The University of Texas Southwestern Medical Center.
Her laboratory was the first to identify the genes (BAP1 and SF3B1) leading to tumor formation and metastasis of uveal melanoma. She also identified the first gene mutated in a familial form of psoriasis and psoriatic arthritis (CARD14) and determined the functional consequences of its psoriasis causing mutations. Her other research achievements include demonstrating the use of DNA markers in reconstructing human evolution, identifying proteins interacting with the early onset breast cancer gene BRCA1. She continues to work on the genetics and genomics of cancer and skin diseases including psoriasis and keloid formation.
Dr. Bowcock earned her PhD from the University of the Witwatersrand, Johannesburg, South Africa. During her tenure as a postdoctoral fellow in the Department of Genetics at Stanford University, she played a role in mapping loci for cystic fibrosis and Wilson’s disease and used DNA markers to examine the relationship of human populations.
Dr. Bowcock has received numerous awards in recognition of her research, including a Psoriasis Achievement Award from the American Skin Association. She is the inventor of two patents and has published more than 240 scientific papers, books, and book chapters.
Language
Position
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
Multi-Disciplinary Training Areas
Cancer Biology [CAB], Genetics and Genomic Sciences [GGS]
Video
Education
PhD, University of the Witwatersand
Post-Doc, Stanford University
Awards
2005
American Skin Association 2005 Psoriasis Achievement Award
1981
Medical Research Council (South Africa) Award
1979
British Petroleum Research Studentship
1978
Julius Robson Postgraduate Scholarship
Research
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.
Visit the Bowcock Laboratory
Visit the Bowcock Laboratory
Locations
Publications
Selected Publications
- CARD14 signalosome formation is associated with its endosomal relocation and mTORC1-induced keratinocyte proliferation. Paul A. O’Sullivan, Aigerim Aidarova, Inna S. Afonina, Joan Manils, Teresa L.M. Thurston, Rachael Instrell, Michael Howell, Stefan Boeing, Sashini Ranawana, Melanie B. Herpels, Riwia Chetian, Matilda Bassa, Helen Flynn, David Frith, Ambrosius P. Snijders, Ashleigh Howes, Rudi Beyaert, Anne M. Bowcock, Steven C. Ley. Biochemical Journal
- Host Nuclear Genome Copy Number Variations Identify High-Risk Anal Precancers in People Living with HIV. Tinaye Mutetwa, Yuxin Liu, Richard Silvera, Michelle Evans, Michael Yurich, Joseph Tripodi, Issa Leonard, Jane Houldsworth, Zeynep Gmş, Anne M. Bowcock, Keith Sigel, Michael Gaisa, Paz Polak. Journal of Acquired Immune Deficiency Syndromes
- IL4Rα and IL17A Blockade Rescue Autoinflammation in SOCS1 Haploinsufficiency. Conor Gruber, Angelica Lee, Sofija Buta, Saakshi Khattri, Alice B. Gottlieb, Jacqueline M. Frost, Anne M. Bowcock, Hsi en Ho, Dusan Bogunovic. Journal of Clinical Immunology