Maria Clara Bonaglia

Maria Clara Bonaglia graduated in Biological Sciences at the University of Pavia in 1993. In 1996, she specialized in Human Cytogenetics at the School of Medicine of the University of Pavia, where she started her studies on karyotype/phenotype correlation and molecular mechanisms of chromosome rearrangement. In 1996, first as a postdoc and later as a researcher, she organized her own laboratory of cytogenetics and molecular cytogenetics at the Scientific Institute E. Medea, Bosisio Parini (LC). During this period, she discovered the first association of the SHANK3 gene with the neurological phenotype of 22q13 deletion syndrome (Bonaglia et al, AJHG 2001); subsequently she discovered that a recurrent terminal deletion of 140 kb at 22q13.3 (the first instance of a recurrent terminal deletion) suggesting that haploinsufficiency of SHANK3 was responsible for a mental retardation/autistic-like syndrome (Bonaglia et al. JMG 2006), as later confirmed (Durand et al, Nature Genetics 2007). Since then, her main interest focussed on the causes of chromosome rearrangements occurrence and the genotype/phenotype correlations on rare neurodevelopmental disorders. Indeed, the routinary translation of the diagnostics made in postnatal setting into active research, has been crucial in order to answer why and how any genome variant originated and all its possible consequences in relation to genes involved within or flanking the rearranged region. To gain insights into the genetic and molecular mechanisms that may be altered in neurodevelopmental diseases she has applied several strategies ranging from the traditional cytogenetic chromosome analysis to high-throughput genome-wide approaches. Her key achievements in the last five years pertain with chromoanasynthesis events. In particular, in a constitutional ring chromosome 22, we have been able to dissect patient's phenotype, providing evidence that it resulted by the sum of different factors including the global alteration of the topological chromatin organization in addition to the deletion or duplication of dosage-sensitive genes (Kurtas, […], Bonaglia et al. JMG 2018). In a further study, we demonstrated a link between numerical and structural chromosomal abnormalities, highlighting the complex aetiology of a huge number of unbalanced de novo translocations and establishing the absence of recurrence risk in the following pregnancies for this class of de novo structural rearrangements (Bonaglia et al. HUGE 2018). Other key factors inherent to her research have been the great effort she has always made both to preserve the biomaterial of the probands and their parents, with the setting-up of LCL, and to deepen their phenotypic characteristics over time by requiring referring physicians to examine the patients regularly in the following years. Present position: Tenured Research Scientist and Head of Cytogenetics and Molecular cytogenetics Unit at IRCCS Eugenio Medea, Scientific Institute, Bosisio Parini (LC), Italy. She has received the national scientific qualification to cover the role of Associate Professor of Medical Genetics and the role of Associate Professor of Applied Biology valid for the period 2014-2020