Human Molecular Genetics. Coordinator: Maestrini

Research themes

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.

Lab members:

• Elena Maestrini, Full Professor, email

• Elena Bacchelli, Associate Professor, email

• Marta Viggiano, Junior assistant professor (fixed-term), email

• Laura Sandoni, PhD student, email

Publications

• 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. https://doi.org/10.3389/fpsyt.2022.858238
• 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. https://doi.org/10.1038/s41598-020-59922-3
• 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. https://doi.org/10.1038/s41398-020-00866-7
• 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. https://doi.org/10.1126/science.aap8757
• Pinto D, Delaby E, Merico D, et al. Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am J Hum Genet. 2014 May 1;94(5):677-94. https://doi.org/10.1016/j.ajhg.2014.03.018