Hhuman molecular genetics. Coordinator: Maestrini

Our group is interested in studying genetic factors involved in brain development and function, with a specific focus on 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 sample of Italian families with ASD, through high-density SNP-array analysis and whole exome sequencing, in order to identify a diverse range of variants (CNV and SNVs, de-novo or inherited) possibly involved in ASD susceptibility.

The main difficulty remains to interpret the functional significance of these variants, and to unravel their involvement in ASD aetiology. We aim to identify common molecular functions underlying the pool of many different candidate genes, and to integrate genetic and phenotypic data generated in our sample with large publicly available dataset. Furthrmore, we plan to use Drosophila as and in vivo genetic model to carry out functional analysis of specific genes.

2) Genetic susceptibility in Cluster Headache

The pathological mechanisms of Cluster Headache (CH), a severe primary headache, are still poorly understood. Our group, in collaboration with the Headache Center of Modena Policlinico Hospital, recently identified evidence of association with genes involved in central pain processing. Further studies are on-going in order to replicate these initial findings in a larger sample of CH patients.

Lab members:

  • Cinzia Cameli (dottoranda), email

  • Sara Monticelli (dottoranda), email


Bacchelli E, Cainazzo MM, Cameli C, Guerzoni S, Martinelli A, Zoli M, Maestrini E, Pini LA. (2016). “A genome-wide analysis in cluster headache points to neprilysin and PACAP receptor gene variants”. J Headache Pain17:114 https://link.springer.com/article/10.1186/s10194-016-0705-y

Bacchelli E, Ceroni F, Pinto D, Lomartire S, Giannandrea M, D'Adamo P, Bonora E, Parchi P, Tancredi R, Battaglia A, Maestrini E (2014). “A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder. J Neurodev Disord. 6:17. https://jneurodevdisorders.biomedcentral.com/articles/10.1186/1866-1955-6-17

Pinto D, Delaby E, Merico D, et al (2014). “Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.” Am J Hum Genet. 94:677-94. http://www.sciencedirect.com/science/article/pii/S0002929714001505

Maestrini E, Pagnamenta AT, Lamb JA, Bacchelli E, Sykes NH, Sousa I, Toma C, Barnby G, Butler H, Winchester L, Scerri TS, Minopoli F, Reichert J, Cai G, Buxbaum JD, Korvatska O, Schellenberg GD, Dawson G, de Bildt A, Minderaa RB, Mulder EJ, Morris AP, Bailey AJ, Monaco AP; IMGSAC (2010) “High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility” Mol Psychiatry 15:954-68. https://www.nature.com/mp/journal/v15/n9/full/mp200934a.html

Autism Genome Project Consortium (2007). Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet. 39:319-28. https://www.nature.com/ng/journal/v39/n3/full/ng1985.html