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Manel Esteller_edited.jpg

Director, Josep Carreras Leukaemia Research Institue (IJC), Badalona, Barcelona, Catalonia, Spain

Chairman of Genetics, School of Medicine, University of Barcelona

Research Interests:

Definition of the Epigenome and Epitranscriptome of Cancer Cells: Profile of DNA methylation and histone modifications in tumor suppressor genes and repetitive sequences in cancer. Global and gene-specific definition of aberrant epigenetic changes and functional consequences in transcription regulation, DNA repair and chromosome instability.

Study of the Epigenetics and Epitranscriptomics Machinery and Mechanisms: Role and function of DNA and RNA methyltransferases, specificity of methyl-CpG binding domain proteins (the nuclear factors that recognize DNA methylation), analysis of biological properties of histone deacetylases and methyltransferases (enzymes that modify histones).

Study of Mutations in the Epigenetic Machinery: The mechanisms underlying the disruption of the epigenetic landscape in transformed cells are unknown.

Study of the Epigenetic and Genetic Disruption of Non-Coding RNAs in Human Cancer.

Characterization of the Epitranscriptome in Human Diseases.

Mary Helen_edited.jpg

Wun-Kon Fu Endowed Chair in Radiation Oncology, University of California San Francisco, Helen Diller Family Comprehensive Cancer Center

Research Interests:

My laboratory studies ionizing radiation, both as a carcinogen and a therapeutic. I discovered that radiation activates transforming growth factor β (TGFβ) and that TGFβ mediates DNA damage repair by homologous recombination, non-homologous end-joining and alternative end-joining. TGFβ also regulates the composition of the irradiated tumor microenvironment, particularly immune cell phenotypes. Detailed understanding of how TGFβ contributes to therapeutic response in preclinical models of breast, brain, lung and head and neck cancer has generated new rationales for clinical applications of TGFβ inhibitors.

In carcinogenesis, we use mouse models to study the mechanisms by which radiation increases breast cancer. Understanding the etiology of cancer is founded upon understanding of normal tissue biology and is advanced by application of systems biology approaches. We study the mammary gland in terms of stromal-epithelial interactions, regulation of mammary hierarchy and differentiation, and the functions of TGFβ and BRCA1. We have described radiation effects in cell-cell interactions, tissue composition and cell phenotype as a function of radiation type, dose and age at exposure in normal mammary gland and their consequences in carcinogenesis. These studies have generated new understanding of the biological mechanisms underlying radiation risks and insights for the means to protect irradiated populations after exposure.


Clinical Director & Senior Investigator, Clinical Genetics

National Institute of Health

Research Interests:

Dr. Savage leads clinical, genetic, and epidemiologic studies of individuals and families at high risk of cancer. Her comprehensive approach combines genomics with clinical genetics and molecular biology to improve understanding of cancer etiology and the lives of patients with complex cancer-prone disorders. 

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