Research group leader of the group Inborn errors of Endocrinology and Metabolism
Our research aims to identify genes causing inborn errors of endocrinology and metabolism, to improve diagnostics and management for affected families, and to clarify disease mechanisms primarily for mitochondrial disorders and diseases affecting brain metabolism.
Inborn Errors of Endocrinology and Metabolism comprise many hundred rare diseases that collectively affect around 1/1.500 newborns. Many can be successfully treated provided that a correct diagnosis is established in early disease stages. Without treatment, many diseases cause severe irreversible damage particularly of the brain. There is an intense development of novel treatment strategies in the area. We have built a strong translational environment combining laboratory medicine, clinical medicine, high throughput genomics and basic experimental science. Through this integrated concept, whole genome sequencing has been implemented into healthcare. At the same time, novel disease mechanisms are being discovered and investigated experimentally in different model systems.
We have discovered a number of novel diseases and are working to clarify pathogenetic mechanisms behind several more. This provides novel knowledge on both normal and pathological brain metabolism, and provides possibilities to develop new treatments. One example is AGC1 deficiency, with a new mechanism for hypomyelination that can be treated with a ketogenic diet. We have also shown that a disturbed switch between glycolysis and oxidative phosphorylation seems to be involved in neurodegeneration, a finding that we are exploring further.