The Diabetes and Endocrinology Research Laboratory (DERL) is dedicated to two fundamental areas of diabetes research: the epidemiological and genetic underpinnings of type 2 diabetes, including its cardio-renal-vascular complications, and the study of monogenic diabetes, characterized by Mendelian inheritance patterns.
Type 2 diabetes is one of the most pressing global health challenges, currently affecting approximately 500 million people worldwide—a figure projected to surpass 700 million in the coming decades. Patients with type 2 diabetes face a markedly higher risk of cardio-renal complications and overall mortality compared to non-diabetics. This highlights the critical need to investigate "environmental" risk factors, such as overnutrition and sedentary lifestyles, alongside the molecular and genetic mechanisms driving the disease and its complications.
Over the past two decades, DERL has been at the forefront of advancing knowledge about the genetic causes of type 2 diabetes and the pathophysiological mechanisms underlying its chronic complications. Collaborating with other units of the Institute—including Endocrinology, Internal Medicine, Cardiology, and the Clinical Laboratory—the laboratory has significantly contributed to the development and refinement of predictive models for complications and mortality risk in diabetic patients. Among its most impactful achievements is the creation of a predictive mortality model for diabetic patients, which is freely accessible to the Italian diabetes care community. This model is a groundbreaking tool in the management of multifactorial diseases like diabetes, enabling personalized patient care based on specific mortality risks and optimizing the allocation of resources within the national healthcare system.
Monogenic diabetes, a rare form of diabetes caused by specific genetic mutations with Mendelian inheritance, represents another vital focus of the laboratory's work. Recent scientific advancements, with substantial contributions from DERL, have significantly enhanced diagnostic precision and enabled the implementation of precision medicine. These breakthroughs have led to more targeted follow-up care and treatments tailored to the unique genetic mutations present in each patient. As a result, therapies for monogenic diabetes are now more effective and the disease can be managed with greater precision, offering improved outcomes and quality of life for affected individuals
