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Genetics and disease: papers co-authored by Dr Eric Gamazon published in Science and Nature

16 December 2021 Life Members

Dr Eric Gamazon, a Life Member of Clare Hall (Visiting Fellow, 2018), has co-authored two papers published by the journals Science and Nature.

The Science paper, co-authored in collaboration with fellow Cambridge University researchers, performed the largest-ever genetic analysis of protein expression, providing a detailed map of connections between genetic variants, proteins, and complex diseases. The study addresses a major barrier to clinical translation of genetic findings.

The second paper, published in Nature, solves a long-standing mystery in metabolism and cell biology. Oxidative stress has been linked to diverse diseases, including neurodegenerative disorders and cancers. The discovery of how the cell protects itself – through the import of the major antioxidant glutathione into the mitochondria – has potential implications for new treatments.

Dr Gamazon comments:

I am very grateful to Clare Hall for providing a stimulating environment, which has had a positive impact on my research.

Dr Eric Gamazon develops and applies 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 biological function. An ongoing project of his NIH-funded laboratory involves understanding gene regulation across tissues and cell types to gain insights into disease mechanisms and therapeutic targets. He utilises 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, to discover novel biomarkers, and to enable a comprehensive systems view of the disease phenome.