Karolinska helps uncover a possible new disease at Nordic workshop

For two days in June, clinical geneticists, data scientists and laboratory specialists from Sweden, Denmark, Norway, Finland and Iceland gathered at Karolinska University Hospital for NUHA's first Clinomics workshop. Together, they worked through ten of the hardest rare disease cases from across the Nordic region, cases that had remained unsolved despite years of investigation at home.

By the end of the two days, one case stood out.

"We've been working on a case where we actually feel quite confident, two groups arrived independently at the same conclusion, that this could be an entirely new disease," says Ann Nordgren, senior physician and professor in clinical genetics, who recently took on the role of director for Karolinska's Centre for Rare Diseases (CSD).

"We've found a disease here, together with variants in this gene. We still need follow-up studies, but what we have so far is very strong", she says.

Read the full story on nuhalliance.eu.