Discovered diagnosis for a rare pathology in our Department

Gianfranco Bocchinfuso, Paolo Calligari and Lorenzo Stella, members of our Department, contributed to the discovery of a novel ultra-rare pathology, in the framework of an international collaboration coordinated by the Bambino Gesù pediatric hospital. The researchers proposed the name FHEIG for this developmental disorder, which until now was without a diagnosis. The study, published in the last issue of the American Journal of Human Genetics, revealed that FHEIG syndrome is caused by mutations in the gene coding for the TRAAK protein, a potassium channel. Using molecular dynamics simulations performed on the CINECA supercomputers, our colleagues clarified how the mutations alter the mechanism of channel gating in response to external stimuli. Understanding the molecular bases of rare diseases allows early diagnosis and is the first step towards the search for possible cures.

Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental SyndromeThe American Journal of Human Genetics, 2018, 103(4): 621-630.