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Fighting brain injuries through metabolic diseases research

Disturbances in the body's metabolism often cause serious brain damage. Many of these illnesses could be treated, but so far researchers know too little to be able to develop new treatments. Anna Wedell and her colleagues at the Karolinska Institutet now have the opportunity to map disease mechanisms in detail.

The brain is extremely sensitive to disturbances in the body's metabolism and most metabolic diseases cause brain damage, if patients do not receive treatment at an early stage. This brain damage can lead to delayed development, epilepsy and even premature death to name but a few. Many metabolic diseases could be treated, but more detailed knowledge is required to be able to develop new treatments.

Three stage development towards new medicines

In this study, researchers shall identify new disease mechanisms in patients with metabolic diseases that affect the brain. Large scale DNA sequence analysis is used to identify gene variants that may be the cause of diseases in carefully selected patients. The researchers will then use fruit flies to select which genetic variants are of most interest to study further. After this they will look at corresponding gene variants in both fruit flies and mice as well as cells from the patients, which are reprogrammed to be nerve cells. All three models can be used to test different substances with the aim to develop medicines.

"To date we have discovered two new metabolic diseases that have provided us with new knowledge about the brain's metabolism," says Anna Wedell. "We will now merge four research groups, which together will have a unique opportunity to study in-depth new disease mechanisms in patients with metabolic diseases that affect the brain. The object is to develop new treatments for this large group of diseases," says Anna Wedell, Professor of Medical Genetics.