PhD to Henrik Underthun Irgens
Henrik Underthun Irgens had his Public defence Friday October 6th 2017 for PhD degree at the University of Bergen with titel: "Targeted clinical and genetic investigations to identify monogenic diabetes".
Some children with diabetes do not need insulin
Diabetes is a public disease with increasing incidence and high degree of morbidity and mortality. About 10-15% of patients have type 1 diabetes affecting children and young adults. About 80% have type 2 diabetes that usually occurs after age 40. 5% have a hereditary form called monogenic diabetes. Every year, about 300 children in Norway get diabetes. We have previously thought that all of these have type 1 diabetes which involves lifelong treatment with insulin.
Recent research shows that some may have monogenic diabetes where a change in gene leads to impaired ability to produce insulin. We know today that some patients with monogenic diabetes can be treated with sulfonylurea tablets instead of insulin. This significantly improves the quality of life for the child and the family due to absence of painful insulin injections. Furthermore, regulation will usually be improved, which reduces the risk of development of diabetes related complications. It is therefore important to find these children so that they get the best treatment.
The dissertation is based on clinical and biological material from the Norwegian Children's Diabetes Register and the Norwegian MODY Register. By using information from the registers and conducting a systematic, genetic screening, it was found that approximately 1% of all children with diabetes have monogenic diabetes. Modern DNA sequencing technology showed that one of three children with monogenic diabetes had not detected hereditary risk. Furthermore, it was possible to find a precise, genetic diagnosis of several of these children. The new DNA sequencing technology also found genetic variants with uncertain significance, and in the last part of the dissertation two families with such variants are studied. This resulted in new knowledge about how sugar is stored in the liver.
The results of the dissertation show that DNA sequencing can improve the diagnosis of childhood diabetes. This is an example of the new precision medicine because more children with diabetes can get more optimal treatment, which can improve the quality of life and cause fewer complications.
Henrik Underthun Irgens (born 1975) educated doctor at the University of Bergen, Norway (2002). He is a specialist in childhood diseases and works as a senior physician at the Department of Endocrinology at the Children and Youth Clinic, Haukeland University Hospital. Doctoral thesis work is based on K.G. Jebsen Center for Diabetes Research, K2, University of Bergen, and Child and Youth Clinic, Haukeland University Hospital. Principal supervisor: Professor Pål Rasmus Njølstad, assistant leader: Professor Anders Molven.
For more information: http://www.uib.no/nye-doktorgrader/111030/noen-barn-med-diabetes-trenger-ikke-insulin