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Approved research

A meta-investigation of combinatorial mutation signatures in broad disease categories

Principal Investigator: Dr Sayoni Das
Approved Research ID: 44288
Approval date: November 20th 2018

Lay summary

The proposed study aims to address three research questions: * Are there genetic defect patterns common to broad categories of disease such as all cancers, all psychiatric disorders, or all musculoskeletal disorders? * Conversely, are there genetic patterns that help protect people against broad categories of disease, such as cancer or cardiovascular disease? * Are there genotypic variant signatures allowing stratification of patients that could inform the risk of developing a disorder and likelihood of drug therapy response? The proposed research would improve our understanding of the genomic basis of disease formation (or disease prevention). We hope to identify individual genetic defects or combinatorial defect clusters that are commonly associated with broad categories of disease, that is, found in significantly higher numbers of patients compared to healthy controls. Similarly, we hope to identify protective signatures that are found in many more healthy controls compared to afflicted individuals. In addition, we hope to develop new improved ways of identifying patients at risk of developing a disease or its complications, and enable patients to be treated with a drug therapy regimen that is tailored to their individual needs. Successful results would help future researchers identify means to increase human longevity and wellness by manipulating genetic mechanisms involved in broad categories of disease. Through follow-on studies, researchers may identify new drugs that work across broad categories of disease. Such drugs with broad applicability may cost less to develop, test, and bring to market, thus helping everyone afflicted with those diseases. Tailoring therapies to patients' individual needs may significantly reduce the burden on the healthcare system through reduced side effects due to drug interaction or lack of therapy response, leading to hospital admissions. The project duration is 24 months.