Dr Eric R. Gamazon and his team of collaborators develop and apply genomic and computational methods to investigate the genetic architecture of complex traits, including disease risk and drug response. He is interested in what can be learned from DNA sequence and multi-omics data about disease mechanism, therapeutic intervention, molecular evolution, and genome function. An ongoing project involves understanding gene regulation across tissues and cell types to gain insights into disease mechanisms and therapeutic targets. He utilizes large-scale DNA biobank data linked to electronic health records, along with data science and computation, to identify genes involved in human health and disease in diverse populations, to discover novel biomarkers, and to enable a comprehensive systems view of the disease phenome.
Current research interests in complex traits genetics include characterizing the genetic architecture of hematopoietic diseases, including Myelodysplastic Syndromes (MDS) and Acute Myeloid Leukemia (AML). He is developing functional genomics resources for probing molecular mechanisms underlying hematopoiesis and hematologic disorders. Studies of hematopoietic stem- and progenitor-cells (HSPCs), accumulating genetic modifications, and resulting clonal expansions are of interest.
Ongoing research also includes modeling the transcriptional regulatory programs in the brain, in collaboration with human geneticists, neuroscientists, and evolutionary biologists. This work has obvious relevance to understanding the molecular basis of neuropsychiatric and neurodegenerative disorders.
In recent highly interdisciplinary work, he is developing computational approaches to studying the structure, dynamics, and stability of biological molecules within Density Functional Theory (DFT), molecular dynamics, and coarse-grained modelling and using experimental techniques (e.g., X-ray crystallography, NMR spectroscopy, and cryo-electron microscopy).
He is co-founder of the Chemistry and Disease Genomics Group (CDGG) with David Collison (Manchester) and Lalarukh Akhter (Cambridge).
He is part of the GTEx Consortium and the T2D-GENES Consortium. He was also a member of the International Warfarin Pharmacogenetics Consortium GWAS team. As part of the Pharmacogenomics of Anticancer Agents Research (PAAR) Group at the University of Chicago, he developed and applied computational approaches to the study of the genetic basis of cancer susceptibility and of response to a wide array of functionally diverse chemotherapeutics.
Dr Gamazon is a member of the faculty in the Division of Genetic Medicine in the Department of Medicine (Vanderbilt University Medical Center), the Vanderbilt Genetics Institute, and the Vanderbilt Data Science Institute.
He is now a Life Member (2019 — present) of Clare Hall, University of Cambridge, able to return any time to participate in the intellectual life of the college. Clare Hall is the University’s “Institute for Advanced Study,” a unique college devoted to research and scholarship and a culturally rich and intellectually exciting academic community. In 2018, he was elected to a Clare Hall Visiting Fellowship to advance his research and scholarship and mentor graduate students. He was also a visiting scholar in the Department of Medicine, the MRC Epidemiology Unit, and the MRC Biostatistics Unit of the University of Cambridge.
He has conducted research in genomics and translational science in the Section of Genetic Medicine of the University of Chicago and the Faculty of Medicine (AMC) of the University of Amsterdam. He was trained in Mathematics and Statistical Genetics.
Prediction ; Bayesian methods ; Statistical Genetics ; Regulation of gene expression / transcription ; Computational biology ; Functional Genomics ; Data Science ; Cancer Biology ; Hematopoiesis ; Stem cells ; High-throughput sequencing ; Machine learning ; Omics data management storage and annotation ; Methylation ; Bioinformatics ; Big Data in Biology ; Evolutionary Genomics ; Next Generation Sequencing ; Pharmacogenomics ; Neuropsychiatric Genetics ; Biobank and Phenomics ; Epigenome ; Molecular Dynamics ; X-ray Crystallography ; NMR Spectroscopy ; Structural Biology ; Coarse-grained Models ; Density Functional Theory