Understanding and correcting SETD5 haploinsufficiency leading to intellectual disability

Intellectual disability and autism spectrum disorders, the most common neuro-developmental disorders in humans, are major social problems in all countries. Intellectual disabilities are conditions charaterized by low IQ (<70) in conjunction with significant limitations in adaptive functioning. Patients with autism spectrum disorder generally share behavioral problems that lead to defects in social communication and interaction. Both conditions are clinically and aetiologically heterogeneous posing many limitations to an effective therapeutic approach. Nevertheless recent genetic studies indicated that their genetic causes fall in similar and overlapping categories. A new cause for both intellectual disability and autism spectrum disorders is the partial inactivation (haploinsufficiency) of SETD5 gene. This gene is nowadays completely uncharacterized. Thus the goal of our project is to identify the roles of SETD5 in neuronal cell; this will allow to better understand the molecular mechanisms of the patologies. Moreover, we will use an innovative genetic technology to reactivate the gene in affected cells to overrule their defects. This approach represents an extremely interesting opportunity to possibly cure these diseases.