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Approved research

How does results from experimental model systems translate to human health?

Principal Investigator: Dr Mette Nyegaard
Approved Research ID: 60032
Approval date: March 30th 2020

Lay summary

During the last many years, researchers have used animal models such as mice, fruit flies, worms and zebra fish to uncover links between diseases and specific genes. For the vast majority of the animal models, it is however unclear if these mutations will cause a similar disease in humans, and thus if the models are indeed useful for studying underlying mechanisms of the disease and to find new drugs for use in humans. In the proposed research project, we will investigate if variants, which have already been investigated in either an animal or cells and shown to have an effect. We will use data from the UKBB to investigate if these variants are likely to have the same effects in humans. We will start by focusing on genes involved in intracellular calcium signalling, ion-transport and ion-sensing. Many of these genes have a profound effect on both the heart and the brain in animals, but if this is also the case in humans is unknown. The long-term goal is to perform a systematic evaluation on how much of the insight we have from the laboratory, is likely to be valid in humans. This could give us important new clues to disease mechanisms and possible treatment targets in humans.