Scientists contribute to the discovery of a new genetic disorder

The Molecular Pathology Group at ICGEB Trieste, led by Scientific Coordinator Dr Emanuele Buratti, contributed to a study recently published in Genome Medicine identifying a previously unknown neurodevelopmental disorder caused by mutations in the SF3B3 gene, a key component of the RNA splicing machinery. The study shows how defects in a central splicing factor can disrupt critical developmental programmes, leading to a new class of genetic diseases, and the availability of 24 cases will allow the condition to be included in the OMIM international database.

The work, initiated by Dr Luciana Musante (IRCCS Burlo Garofolo, Trieste) and Prof Flavio Faletra (ASUFC and University of Udine), is the result of a collaborative network involving national and international institutions, including ICGEB and CNR – Istituto Officina dei Materiali.