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 E-Mail Credit: Stefan Zimmerman More than 1,200 people with rare diseases have received a diagnosis thanks to the integration of large-scale genomics into the Stockholm region s healthcare system. This is according to a study from Karolinska Institutet in Sweden that analysed the result of the first five years of collaboration on whole genome sequencing between Karolinska University Hospital and SciLifeLab. The work, published in Genome Medicine, constitutes a major leap forward in the emerging field of precision medicine. We ve established a way of working where hospital and university collaborate on sequencing each patients entire genome in order to find genetic explanations for different diseases, says the paper s first author Henrik Stranneheim, researcher at the Department of Molecular Medicine and Surgery, Karolinska Institutet. This is an example of how precision medicine can be used to make diagnoses and tailor treatments to individual patients.

Anna wredenbergNicole leskoAnna lindstrandValtteri wirtaPeter gustavssonAdam rosenbaumAnn charlotte wikstrKristina lagerstedt robinsonMagnus nordenskjKarolinska institutetMalin kvarnungHenrik arnellDaphne vassiliouHenrik stranneheimEllika sahlinChiara rasi