I lead the Pediatric Autoimmunity research group at the Clinical Research Centre in Malmö (CRC), where I also run a dedicated laboratory. My research spans the entire disease trajectory in children diagnosed with type 1 diabetes – from genetic and immunological risk factors to practical innovations in clinical care.

Our research focuses on two main areas:

1. Improving and simplifying life for children with type 1 diabetes through more individualized treatment approaches.
2. Understanding disease onset, with a focus on identifying risk factors and clarifying the etiology of type 1 diabetes.

One of my longest-running and central projects is Better Diabetes Diagnostics (BDD) – a national prospective cohort study initiated in 2003 that includes nearly all children diagnosed with diabetes in Sweden. BDD collects extensive clinical, genetic, immunological, and biochemical data and currently holds a biobank of over 16,000 samples from children diagnosed with diabetes. Since 2011, parts of the BDD protocol have been integrated into clinical routine to improve diagnosis and treatment. The study focuses not only on diagnosis and classification of type 1 diabetes, but also on comorbidities, complications, and long-term outcomes in children with diabetes.

Today, BDD serves as a well-established platform for both national and international collaborations and enables detailed time-series analyses of disease progression and treatment effects. Findings from BDD have contributed to changes in both national guidelines and international recommendations, such as those issued by ISPAD and ESPGHAN, particularly concerning the diagnosis of monogenic diabetes and celiac disease in children with type 1 diabetes.

In collaboration with the University of Exeter, we are working to improve diagnostics of monogenic diabetes and reduce misdiagnosis. We are also evaluating how genetic risk scores (GRS) can be used to predict complications and comorbidities at diagnosis in children with type 1 diabetes, aiming to enable more personalized care from the time of diagnosis.

Our studies reveal significant heterogeneity within the disease, including sex-based differences in autoantibody patterns and clinical outcomes in children presenting with few or no autoantibodies at diagnosis. These findings challenge current models of disease staging and screening and highlight the need for more differentiated strategies. Our research into disease heterogeneity may also help us understand whether individuals with different so-called endotypes have distinct environmental triggers for disease onset.

A recurring and major focus of my research is understanding why children develop type 1 diabetes and why the incidence is increasing. Based on earlier findings suggesting a potential link between gluten and type 1 diabetes risk, we have conducted both interventional and epidemiological studies, including in children with both type 1 diabetes and celiac disease. These studies have not found evidence that gluten or celiac disease increases the risk of type 1 diabetes or affects metabolic control. However, further research is ongoing to fully substantiate these conclusions.

Our data also indicate a shift in HLA genotypes over time, with more children being diagnosed despite having low genetic risk – often in combination with higher BMI. We have identified maternal obesity and high birth weight as additional risk factors, reinforcing the hypothesis of a multifactorial disease origin. These findings, along with national BMI data, are now the basis of ongoing research into whether BMI itself is a risk factor for type 1 diabetes, and specifically whether early high BMI in children increases the risk of early-onset type 1 diabetes. Here again, our interest in disease heterogeneity is highly relevant, as we hypothesize that different individuals have varying sensitivities to environmental factors depending on sex and genetic background.

Most recently, we have been involved in national investigations into the increased incidence of type 1 diabetes in boys during the COVID-19 pandemic, which further highlights the importance of being able to respond rapidly to new epidemiological signals. Several of our studies take a deeper look at this period to examine what occurred during the pandemic and which risk factors may have contributed.

Annelie Carlsson, Associate Professor and Senior Lecturer
Qefsere Brahimi, Biomedical Analyst and Data Manager
Emma Hedlund, MD, PhD Student
Elsa Palmkvist, MD, PhD Student
Josefin Anderberg, MD, PhD Student
Marie Lindgren, Postdoctoral Fellow