Undiagnosed disease program (UDP)

In order to improve diagnostics of patients with unknown often ultra-rare disorders researcher and clinical experts collaborate in the Karolinska Undiagnosed Diseases Program diagnostic team (K-UDP).

K-UDP is a novel national initiative where Karolinska will be the coordinating center and SciLifeLab the sequencing core. This national initiative will facilitate new gene discoveries and studies of mechanisms in undiagnosed diseases. The Rare Diseases research group is also a member of the Undiagnosed Diseases Network International (UDNI) - an international collaboration with other clinical and research sites worldwide among them several top universities from the USA. The UDP concept requires international collaboration and multidisciplinary one-stop shop outpatient clinics for diagnostics of patients with rare diseases of all ages.

In August 2017 the 5th international conference on rare and undiagnosed diseases was placed in Stockholm.