A national diabetes registry will enable patient monitoring and action plans to be improved
Classifying individuals with diabetes according to their genetic and clinical characteristics is key to being able to provide them with the most appropriate treatment
First publication date: 17/11/2022
World Diabetes Day takes place on 14 November. “Educate to protect the future” is the slogan chosen this year by the International Diabetes Federation, which is proposing diabetes education and training as a central theme. According to data produced by the WHO, the number of people with diabetes increased from 108 million in 1980 to 422 million in 2014. In addition, half of the diabetics in Spain remain undiagnosed; they do not yet know that they are diabetic.
Dr Luis Castaño is professor of Paediatrics at the University of the Basque Country (UPV/EHU), head of the Department of Paediatrics at the Faculty of Medicine and Nursing, doctor at University Hospital Cruces, and researcher at the following centres: Biocruces Bizkaia, the Diabetes and Associated Metabolic Diseases Networking Biomedical Research Centre (CIBERDEM), the Networking Biomedical Research Centre for Rare Diseases (CIBERER), and Endo-ERN (European Reference Network of centres for Endocrine and Diabetes diseases). “Diabetes encompasses a range of different diseases characterised by having high sugar levels,” explained the doctor. Izortze Santin, a lecturer in the UPV/EHU's Department of Biochemistry and Molecular Biology on the Biotechnology and Biochemistry degrees, comments to the same effect: “There is a huge difference in the development and characteristics of the different types of diabetes.”
The researchers refer to the types of diabetes they work with: “We work with type 1 diabetes (of autoimmune origin), monogenic diabetes (caused by an alteration in a specific gene), and various type 2 diabetes (the most common is that which occurs in people with obesity, although type 2 diabetes can also occur in thin people with insulin resistance); and not to mention gestational diabetes, neonatal onset diabetes, etc.,” said Dr Castaño.
Luis Castaño is the senior researcher in the UPV/EHU’s Consolidated Endocrine-Metabolic Diseases Group and has a professional track record of 40 years in diabetes research: “The Group works on the early diagnosis, prevention, genetic characterisation of diabetes, and improvement of diabetes treatments. We are also a leading European group for rare types of diabetes. We want to drive forward experimental research, and transfer it to the clinical setting so that it can be directly applied to the patient,” said the doctor. The group is a multidisciplinary one that brings together staff with clinical, basic experimental and bioinformatics backgrounds, and which collaborates with European and national diabetes research networks (CIBERDEM). Dr Santin is the senior researcher in the team studying the functional genetics of type 1 diabetes.
Multi-pronged diabetes research
At the epidemiological research level, “we know that approximately 13.5% of the adult Spanish population has diabetes. However, distribution across the different regions is heterogeneous. So some areas, such as Andalusia or the Canary Islands, have twice as many people with diabetes as Asturias or the Basque Country”, she said. To understand the reason for these differences, Dr Castaño stressed the need to set up a national diabetes registry: “It is expected to be up and running in the coming months. At the same time, to improve diabetes treatment it is important to have global data and to know how patients are monitored.” Results of a study by the group show that “almost half of the people with diabetes in Spain are undiagnosed; they do not yet know they are diabetic”. These results show that “a general diabetes registry would not only enable patient monitoring to be improved, but would also help in decision-making on a management level, because it is not the same for 7% of the population to be diabetic or for 13% to be diabetic”.
One of the aims of this group is to determine “what kind of tests should be conducted on people in the early stage of diabetes in order to determine the type of diabetes they have and to decide on the appropriate treatment”. According to Dr Castaño, “it is important to specify how we can classify people with diabetes according to their genetic and clinical characteristics, so that on the basis of that we can provide them with the most appropriate treatment. Right now, we are working on what we call the polygenic risk score, in other words, the genetic risk marker for each diabetes type”, he said. Based on a study of all the genes in the genome, the likelihood that an individual will go on to develop some form of diabetes in the future can be deduced: “We have to look and see which gene or genes are altered, because on the basis of that, the patient will be treated in one way or another.”
Another of the key avenues they are working on is curing diabetes. “Once again, the cure depends on the type of diabetes we are dealing with,” said Castaño. “For example, in order to cure type 1 diabetes, you need to know what causes it.” This is where Dr Santin, who is involved in basic research into type 1 diabetes, comes in: “In my team, we are working to understand the origin of type 1 diabetes, an autoimmune disease that requires lifelong insulin injections, and in which the pancreatic beta cells (the cells that produce insulin) are destroyed by the immune system itself. The results of the studies carried out show that “in people at genetic risk of developing diabetes, certain viral infections or other unestablished environmental factors may trigger an autoimmune activation that leads to the destruction of the pancreatic beta cells”.
Dr Castaño stressed the importance of early diagnosis and prevention: “In type 1 diabetes it is important to prevent the pancreas from being destroyed. We have to diagnose diabetes earlier, and to do so, we have to find out what the natural history is like, that is, the natural evolution of a person with diabetes before it sets in. In this regard, the research group has studied different markers in relatives of diabetics and who may develop diabetes in the future. “In some cases, we have been able to detect alterations in these markers, and through monitoring we have seen which of these individuals develop diabetes,” he explained. In the doctor's opinion, it is very important to start treating these people well in advance to prevent the pancreas from ending up being destroyed: “We are trying to detect who is going to develop diabetes so that we can treat them with immunomodulatory drugs to slow down the development of diabetes.”
The research group combines basic research with translational research applied to the patient, and many of its lines of research are based on the interaction between the two. “It is true that right now there is an increasing demand for applied research, but we have to bear in mind that without basic research, applied research would not be possible,” said Dr Santin. “Collaboration between the two levels is essential, for example, to see if what we perceive in the laboratory is actually reflected in the patients.”