Project description
Subcategorising young patients with diabetes with genetics-based personalised medicine
Diabetes in young children, type 1 diabetes, is a severe condition requiring daily insulin shots to keep blood glucose levels in the normal range. Genetic testing can determine the precise cause in only a small group of young patients. Most cases are classified based on clinical judgment. A recent genetic study of almost 1 500 young patients with diabetes has shed new light on the genetic variants involved and developed approaches to define the noncoding genetic defects that underlie human disease. The ERC-funded GenomeDia project aims to develop and validate a personalised medicine tool based on this and new findings to subcategorise young patients with diabetes.
Objective
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 is currently able to define the precise cause of diabetes in a small group of young patients, although the categorization of diabetes subtypes is in most cases largely based on clinical judgement, rather than on specific tests. It is known, however, that the classification of diabetes subtypes has major implications for treatment. The emergence of whole genome sequencing in clinical practice provides new opportunities for classification of diabetes subtypes, but also entails major challenges such as the interpretation of non protein-coding variants. 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 with diabetes. It also developed approaches that leverage regulatory genomic knowledge to define noncoding genetic defects underlying human disease. 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. This proposal can thus translate fundamental knowledge derived from the ERC-funded Decode Diabetes project into applications whose valorization can bridge the gap to market and provide added value for society.
Fields of science (EuroSciVoc)
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques.
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques.
You need to log in or register to use this function
Programme(s)
- HORIZON.1.1 - European Research Council (ERC) Main Programme
Funding Scheme
HORIZON-ERC-POC - HORIZON ERC Proof of Concept GrantsHost institution
08003 Barcelona
Spain