A better diagnosis of rare diabetes to adapt treatment

Diabetes affects more than 400 million people worldwide and is a major public health problem. Although commonly referred to as a single disease, it actually constitutes a group of metabolic disorders with hyperglycaemia as a common feature. Of all its forms, monogenic diabetes—due to a mutation in one of the genes involved in the management of blood sugar levels—affects 1% to 4% of all cases of diabetes. Often confused with type 1 or type 2 diabetes, more than 90% of monogenic cases are misdiagnosed. A study carried out by scientists from the University of Geneva (UNIGE), the University Hospitals of Geneva (HUG), and the Lithuanian University of Health Sciences in Vilnius with more than 1,200 young diabetics allowed to accurately identify the proportion of monogenic diabetes in the whole pediatric diabetes population. Consequently, treatments were adjusted according to the genetic characteristics of the disease in order to improve patients’ quality of life. The results that can be read in the journal Diabetes, highlight the need for precision medicine in the management of metabolic diseases.

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