Maria Clara Bonaglia

Istituto Scientifico Eugenio Medea, Italy

Maria Clara Bonaglia has been working as a Researcher and Coordinator of the Cytogenetics Laboratory at Scientific Institute E. Medea since 1996. Her laboratory is involved in defining molecular causes of chromosome rearrangement and genotype/phenotype correlation with emphasis on cognitive and behavioral disabilities. A strict collaboration with R. Giorda and O. Zuffardi led to discover the first association of SHANK3 gene with the neurological phenotype of 22q13 deletion syndrome (Bonaglia et al., 2001) and subsequently a recurrent terminal deletion of 140 kb at 22q (the first instance of a recurrent terminal deletion) suggesting that haploinsufficency of SHANK3 was responsible for a mental retardation/autistic-like syndrome (Bonaglia et al., 2006) as recently confirmed by a paper on Nature Genetics. Part of her laboratory is involved in postnatal cytogenetics and culture cell (lymphoblastoid cell line and somatic cell hybrids).

Biography Updated on 4 July 2012

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