Eric R. Gamazon is a statistical geneticist in Vanderbilt University, with faculty affiliations in the Division of Genetic Medicine, Data Science Institute, and Center for Precision Medicine. He is a Life Member of Clare Hall,

Cambridge University , mottoeng = Literal: From here, light and sacred draughts. Non literal: From this place, we gain enlightenment and precious knowledge. , established = , other_name = The Chancellor, Masters and Schola ...

after election to a Visiting Fellowship (2018).

Research and career

Eric Gamazon has developed computational methods that can be used to identify genes and mechanisms underlying complex diseases. He was a developer of the

transcriptome-wide association study Transcriptome-wide association study (TWAS) is a statistical genetics methodology to improve detection power and provide functional annotation for genetic associations with phenotypes by integrating single-nucleotide polymorphism to trait (SNP-tr ...

(TWAS) methodology (PrediXcan), which integrates

gene expression Gene expression is the process by which information from a gene is used in the synthesis of a functional gene product that enables it to produce end products, protein or non-coding RNA, and ultimately affect a phenotype, as the final effect. The ...

and

genome-wide association study In genomics, a genome-wide association study (GWA study, or GWAS), also known as whole genome association study (WGA study, or WGAS), is an observational study of a genome-wide set of Single-nucleotide polymorphism, genetic variants in different i ...

data to identify disease-associated genes. Subsequent work integrated

Mendelian randomization In epidemiology, Mendelian randomization (commonly abbreviated to MR) is a method using measured variation in genes to interrogate the causal effect of an exposure on an outcome. Under key assumptions (see below), the design reduces both reverse ca ...

into TWAS. As of December 2021, he has authored 160

peer-reviewed Peer review is the evaluation of work by one or more people with similar competencies as the producers of the work (peers). It functions as a form of self-regulation by qualified members of a profession within the relevant field. Peer review ...

publications in

human genetics Human genetics is the study of inheritance as it occurs in human beings. Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population gene ...

functional genomics Functional genomics is a field of molecular biology that attempts to describe gene (and protein) functions and interactions. Functional genomics make use of the vast data generated by genomic and transcriptomic projects (such as genome sequencing ...

, and

statistical genetics Statistical genetics is a scientific field concerned with the development and application of statistical methods for drawing inferences from genetic data. The term is most commonly used in the context of human genetics. Research in statistical gen ...

. He was a co-chair of the

Genome-Wide Association Studies In genomics, a genome-wide association study (GWA study, or GWAS), also known as whole genome association study (WGA study, or WGAS), is an observational study of a genome-wide set of genetic variants in different individuals to see if any varia ...

Working Group of the Genotype-Tissue Expression (GTEx) project, the

National Institutes of Health The National Institutes of Health, commonly referred to as NIH (with each letter pronounced individually), is the primary agency of the United States government responsible for biomedical and public health research. It was founded in the late ...

(NIH) program that developed a

transcriptome The transcriptome is the set of all RNA transcripts, including coding and non-coding, in an individual or a population of cells. The term can also sometimes be used to refer to all RNAs, or just mRNA, depending on the particular experiment. The t ...

and

expression quantitative trait loci Expression quantitative trait loci (eQTLs) are genomic loci that explain variation in expression levels of mRNAs. Distant and local, trans- and cis-eQTLs, respectively An expression quantitative trait is an amount of an mRNA transcript or a pr ...

(eQTL) reference resource for the scientific community. He leads a research initiative to integrate large-scale DNA biobanks and functional genomics to further

precision medicine Precision, precise or precisely may refer to: Science, and technology, and mathematics Mathematics and computing (general) * Accuracy and precision, measurement deviation from true value and its scatter * Significant figures, the number of digit ...

in diverse populations. He has identified genes associated with neuropsychiatric disorders. He leads a

National Institute on Aging The National Institute on Aging (NIA) is a division of the U.S. National Institutes of Health (NIH), located in Bethesda, Maryland. The NIA itself is headquartered in Baltimore, Maryland. The NIA leads a broad scientific effort to understand the ...

funded international consortium that aims to identify new treatments for Alzheimer's disease using genetic and molecular data.

Awards and honors

Gamazon was a recipient of the inaugural

Genomic Innovator Award, which is awarded to investigators in genome biology and genomic medicine with “outstanding records of productivity as they pursue important research areas, including new directions as they arise." He was elected a

Fellow of the Royal Society of Biology Fellowship of the Royal Society of Biology (FRSB), previously Fellowship of the Society of Biology (FSB), is an award and fellowship granted to individuals that the Royal Society of Biology has adjudged to have made a "prominent contribution to ...

and a Fellow of

Clare Hall, Cambridge Clare Hall is a constituent college of the University of Cambridge, England. Founded in 1966 by Clare College, Clare Hall is a college for advanced study, admitting only postgraduate students alongside postdoctoral researchers and fellows. It ...

in 2018. In 2021, he was appointed a standing member of the

Review Panel for Biostatistical Methods and Research Design (BMRD), which reviews and makes recommendations on (grant) "applications which seek to advance statistical and mathematical techniques and technologies applicable to the experimental design and analysis of data in biomedical, behavioral, and social science research.”

Selected publications

* Smemo, Scott, Juan J. Tena, Kyoung-Han Kim, Eric R. Gamazon, Noboru J. Sakabe, Carlos Gómez-Marín, Ivy Aneas et al. "Obesity-associated variants within FTO form long-range functional connections with IRX3." ''Nature'' 507, no. 7492 (2014): 371-375. doi:10.1038/nature13138. * Gamazon, Eric R., Heather E. Wheeler, Kaanan P. Shah, Sahar V. Mozaffari, Keston Aquino-Michaels, Robert J. Carroll, Anne E. Eyler et al. "A gene-based association method for mapping traits using reference transcriptome data." ''Nature Genetics'' 47, no. 9 (2015): 1091-1098. doi:10.1038/ng.3367. * Gamazon, Eric R., Ayellet V. Segrè, Martijn van de Bunt, Xiaoquan Wen, Hualin S. Xi, Farhad Hormozdiari, Halit Ongen et al. "Using an atlas of gene regulation across 44 human tissues to inform complex disease-and trait-associated variation." ''Nature Genetics'' 50, no. 7 (2018): 956-967. doi:10.1038/s41588-018-0154-4. * Gamazon, Eric R., Aeilko H. Zwinderman, Nancy J. Cox, Damiaan Denys, and Eske M. Derks. "Multi-tissue transcriptome analyses identify genetic mechanisms underlying neuropsychiatric traits." ''Nature Genetics'' 51, no. 6 (2019): 933-940. doi:10.1038/s41588-019-0409-8. * Wang, Ying, Frederick S. Yen, Xiphias Ge Zhu, Rebecca C. Timson, Ross Weber, Changrui Xing, Yuyang Liu, Benjamin Allwein, Hanzhi Luo, Hsi-Wen Yeh, Søren Heissel, Gokhan Unlu, Eric R. Gamazon, Michael G. Kharas, Richard Hite & Kıvanç Birsoy. "SLC25A39 is necessary for mitochondrial glutathione import in mammalian cells." ''Nature'' 599, no. 7883 (2021): 136-140. doi:10.1038/s41586-021-04025-w. * Pietzner, Maik, Eleanor Wheeler, Julia Carrasco-Zanini, Adrian Cortes, Mine Koprulu, Maria A. Wörheide, Erin Oerton, James Cook, Isobel D. Stewart, Nicola D. Kerrison, Jian’an Luan, Johannes Raffler, Matthias Arnold, Wiebke Arlt, Stephen O’Rahilly, Gabi Kastenmüller, Eric R. Gamazon, Aroon D. Hingorani, Robert A. Scott, Nicholas J. Wareham, Claudia Langenberg. "Mapping the proteo-genomic convergence of human diseases." ''Science'' 374, no. 6569 (2021): eabj1541. doi:10.1126/science.abj1541. * Zhou, Dan, Yi Jiang, Xue Zhong, Nancy J. Cox, Chunyu Liu, and Eric R. Gamazon. "A unified framework for joint-tissue transcriptome-wide association and Mendelian randomization analysis." ''Nature Genetics'' 52, no. 11 (2020): 1239-1246. doi:10.1038/s41588-020-0706-2.

References

{{DEFAULTSORT:Gamazon, Eric R. American geneticists Statistical_geneticists Fellows of Clare Hall, Cambridge Academics of the University of Cambridge Vanderbilt University faculty University of Chicago alumni Year of birth missing (living people) Living people