GenomeDia: a personalized medicine tool for diabetes

Introduction

Diabetes Mellitus affects nearly 600 million people worldwide. It is a major cause of premature death, blindness, end-stage kidney disease, and limb amputation. However, it is not a single disease. Most patients are catalogued as type 2 diabetes, which is itself highly heterogeneous, while others have autoimmune type 1 diabetes.

Genetic Testing and Classification

Genetic testing is currently able to define the precise cause of diabetes in a small group of young patients. However, the categorization of diabetes subtypes is, in most cases, largely based on clinical judgment rather than on specific tests.

It is known, however, that the classification of diabetes subtypes has major implications for treatment.

Opportunities and Challenges

The emergence of whole genome sequencing in clinical practice provides new opportunities for the classification of diabetes subtypes. However, it also entails major challenges, such as the interpretation of non-protein-coding variants.

DecodeDiabetes Project

The recently funded ERC project DecodeDiabetes analyzed sequences from nearly 1500 young patients who had typical features of genetic forms of diabetes but negative genetic tests in specialized genetic diagnostic laboratories.

This study revealed different groups of genetic variants that cause diabetes in young patients. It also developed approaches that leverage regulatory genomic knowledge to define noncoding genetic defects underlying human disease.

Current Proposal

The current proposal aims to compile new findings with existing knowledge and to build a genetic interpretation solution to subcategorize young patients with diabetes.

It will then validate this tool in patient cohorts.

Conclusion

This proposal can thus translate fundamental knowledge derived from the ERC-funded DecodeDiabetes project into applications whose valorization can bridge the gap to market and provide added value for society.