New skeletal disease found and explained
[PRESS RELEASE 2019-02-25] Researchers at Karolinska Institutet in Sweden have discovered a new and rare skeletal disease. In a study published in the journal Nature Medicine they describe the molecular mechanism of the disease, in which small RNA molecules play a role that has never before been observed in a congenital human disease. The results are important for affected patients but can also help scientists to understand other rare diagnoses.The newly identified skeletal disease was first observed in a parent and a child from a Swedish family. “They came to my clinic,” says the study’