Molecular genetics of renal disorders

Irene Franco


Location: DIBIT1 A2, Floor 4, Room 40

Project Leader, Somatic mutation mechanisms lab
Staff scientist, Molecular Genetics of Renal Disorders Unit

Irene Franco holds a PhD in Human Oncology (2014) and an MS in Biotechnology (2009) from the University of Torino (Italy), where she studied cellular signaling in different physio-pathological contexts, including inflammation, embryonic development and polycystic kidney disease. In 2014, she moved to the Karolinska Institute (Sweden), where she used next generation sequencing to study genetic mechanisms of aging. In 2020, she has obtained a Horizon2020 Marie-Curie individual fellowship to move to San Raffaele and develop her research on mechanisms of somatic mutagenesis in the kidney. She has now obtained independent financing from AIRC and Fondazione Cariplo to study somatic mutagenesis in the context of kidney cancer and polycystic kidney disease.

Research activity

Exposure to exogenous and endogenous mutagens results in the daily accumulation of somatic mutations. The consequent loss of genomic integrity is recognized as the leading force in malignant transformation. Despite this important role, our understanding of ongoing mutagenic processes in healthy tissues and cell types is limited.

Our research focuses on somatic mutagenesis in normal tissues, in particular, in pre-cancerous kidney cells. Through analysis of somatic cells taken from human kidneys as well as the use of mouse models, we are investigating molecular mechanisms that may lead to an excessive accumulation of somatic mutations. In particular, through a multidisciplinary approach that combines cellular biology and genomics, we are evaluating whether changes in cellular metabolism may promote mutagenesis and consequently act as a very early trigger of cellular transformation. In addition, we are exploring somatic mutagenesis in kidney samples from patients with inherited diseases that cause cancer predisposition and polycystic kidney disease. Results obtained by this study are expected to provide a better understanding of kidney cancer initiation and possible strategies for prevention of kidney tumors and cysts in individuals at risk.