The latest publication from the OPTOMICS project has been published in Nature, titled “Genetic drivers of heterogeneity in type 2 diabetes pathophysiology.” The publication, led by Prof. Eleftheria Zeggini and boasting an enormous collaborative effort of 364 co-authors including OPTOMICS partner institute, Univ. of Tartu, consitutes the largest genome-wide association study (GWAS) for type 2 diabetes to date. Over 2.5 million individuals (428,452 with T2D) were included in the study, which investigated genetic variations associated with the disease. The authors used cutting-edge computational approaches to integrate data across multiple -omics modalities. They identified eight distinct mechanistic clusters of genetic variants associated with T2D and discovered associations between individual clusters and harmful diabetes complications. The results of the work will lead to an improved understanding of disease-causing biological mechanisms and better knowledge of progression risk for type 2 diabetes.

The work performed in this study will be used in developing the OPTOMICS Digital Twin for type 2 diabetes in a novel approach correlating optoacoustic phenotype biomarkers with genotyping information, proteomic and metabolomic information. The outcome of the project, the OPTOMICS Digital Twin will then help assess progression risk and put in place early interventions to delay or prevent type 2 diabetes and its complications.

Read more in the official press release for the publication here.