Human molecular genetics. Coordinator: Maestrini

Our group is interested in studying genetic factors involved in brain development and function, with a specific focus on the genetic and neurobiological mechanisms increasing risk to Autism Spectrum Disorders

Research themes

1) Genetics of Autism Spectrum Disorders (ASDs).

ASDs are a group of neurodevelopmental disorders characterized by a wide range of deficits in social communication and interaction, as well as restricted patterns of behaviours and/or interests. ASDs have a strong genetic component, however, there are many challenges in understanding the genetic architecture and pathophysiological mechanisms of these disorders. 

The main goal of our project is to identify and characterize new genetic risk factors for ASDs, in order to a) improve molecular diagnosis and b) increase our knowledge of ASD neurobiology. 

We are carrying out genomic analysis of a collection of Italian families with ASD, through high-density SNP-array analysis, whole exome and genome sequencing, in order to identify a diverse range of variants (CNV and SNVs, de-novo or inherited) possibly involved in ASD susceptibility. Interpreting the functional significance of these variants, and unravelling their involvement in ASD aetiology, remains challenging. Therefore, in order to understand the molecular consequences of specific variants, we perform functional analyses of selected genes.

2) Genetics of Developmental Eye Disorders 

We collaborate with the research group led by Professor Nicola Ragge (Oxford Brookes University, UK) on the genetics of human developmental eye disorders. In particular, we perform genomic analyses of families with anophthalmia, microphthalmia and coloboma in order to identify novel genetic variants and molecular mechanisms implicated in these conditions.

Lab members:


  • Viggiano M, D'Andrea T, Cameli C, et al. Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility. Front Psychiatry. 2022 Mar 8;13:858238. 
  • Bacchelli E, Cameli C, Viggiano M, Igliozzi R, Mancini A, Tancredi R, Battaglia A, Maestrini E. An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray. Sci Rep. 2020 Feb 21;10(1):3198. 
  • Lin BD, Colas F, Nijman IJ, et al. The role of rare compound heterozygous events in autism spectrum disorder. Transl Psychiatry. 2020 Jun 22;10(1):204. 
  • Brainstorm Consortium; Anttila V, Bulik-Sullivan B, Finucane HK, et al. Analysis of shared heritability in common disorders of the brain. Science. 2018 Jun 22;360(6395):eaap8757.