Francesca Mari

Francesca Mari graduated in Medicine in 2001 at the University of Siena. She obtained the title of PhD in Medical Genetics in 2006 at the University of Siena and the Specialty in Medical Genetics at the University of Florence in 2010.

She has had research and clinical experiences abroad firstly at Memorial-Sloan-Kettering Cancer Center (directed by Prof. Pier Paolo Pandolfi) when she was attending the 3rd and 4th years of the Medical School, then in the Clinical Genetics Department at the s. Mary’s Hospital in Manchester in 2006 (Prof D. Donnai) and in the Centre for Pediatrics and Adolescent Medicine in Freiburg in 2008 (Prof. Andrea Superti-Furga). In 2007 she obtained joint title of Second level Master in Clinical Genetic from five different Italian Universities (Bologna, Genova, Padova, Roma and Siena). She is now Associate Professor in Medical Genetics at the University of Siena.

Since 2012, she has been actively working on exome sequencing data interpretation. She contributed to the publication of scientific papers in this field. In particular, she identified the genetic cause of intellectual disability and microcephaly in two male brothers, for whom several diagnostic attempts had been done.

She also coordinated the exome analysis in a pair of male fetuses with multiple malformations and their parents, and identified the cause of the malformations, offering a proper prenatal diagnosis to the couple. The application of massive parallel sequencing has also allowed describing mosaic mutations in patients with retinoblastoma with important implications in the genetic counseling management.

Thanks to exome sequencing approach, she contributed to identify variants in lung tumor predisposing genes. The exome sequencing approach was also applied to Rett syndrome to identify variants/modifier genes possibly correlated to the different clinical severity of patients with Rett syndrome. Hints for cholesterol metabolism involvement in Rett came from this study. She also described a challenging case with complex I deficit in fibroblast and not in muscle and a clinical presentation of Leigh syndrome. Exome analysis coupled with RNA analysis allowed to elucidate the molecular basis of this condition, NDUFAF6 deficiency, and confirmed the role of this gene in Leigh syndrome.

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