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Center for Diabetes Research

Genome sequencing and rare varieties of diabetes

(Nature Genetics)

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In this study, the Bergen scientists together with researchers from USA, UK and Sweden for the first time made ​​a large-scale systematic survey of these MODY genes (REF). Previous studies have focused on patients whose prior suspect an inherited form of diabetes, but here one has studied over 4000 individuals from the general population.

The study shows that far more than previously thought carries potential disease variants in the seven most common MODY genes. Bio-informatics unique algorithms flags that as much as 1% of the population has rare genetic changes in these seven genes. However, the study shows that most individuals with these rare gene variants do not appear to develop diabetes. The results show that one should be careful to use gene sequencing in healthy individuals in order to predict future risk of developing diabetes without regard to family medical history and do a clinical assessment. There are indications that the situation is similar in many other hereditary conditions and more research is needed to improve risk assessment in people with possible serious genetic alterations.

The publication has come through one of several collaborative projects with groups at the Broad Institute in Boston, USA, initiated when Professor Pål Njølstad worked as a "visiting professor" there for one year. Beyond Njølstad were also professors Stefan Johansson and Anders Molven and Janne Molnes and Henrik Irgens contributors in the study.

 

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