Simone Sanna-Cherchi, MD
Photo: Simone Sanna-Cherchi



Elected 2018

I am an Associate Professor of Medicine in the Division of Nephrology at Columbia University, New York. I originally graduated from Medical School in Parma, Italy, where I also trained in Internal Medicine and Nephrology. I conducted my postdoctoral training at Columbia University in the field of Nephro-genetics, and finally I repeated my residency in Internal Medicine (St. Luke's-Roosevelt, NY) and fellowship in Nephrology (Columbia University). My research focuses on the investigation of the genetic causes of human kidney disease. For the past years I established a network of investigators across more than 20 countries worldwide recruiting patients for genetic studies. With the use of new high-throughput technologies I demonstrated that genomic disorders are a common cause of kidney malformations (American Journal of Human Genetics 2012; Kidney International 2015; Nature Genetics 2019; Journal of the American Society of Nephrology 2023) and pediatric chronic kidney disease (Journal of Clinical Investigation 2015). We also successfully applied exome and genome sequencing to identify novel susceptibility genes and mutations for kidney and urinary tract malformations (New England Journal of Medicine 2013, American Journal of Human Genetics 2017, Genetics in Medicine 2023), steroid resistant nephrotic syndrome (Kidney International 2011, American Journal of Human Genetics 2021), and atypical hemolytic uremic syndrome (Journal of the American Society of Nephrology 2014). Using multidisciplinary approaches that include human genetics, zebrafish modeling, and analysis of engineered mice, we identified CRKL as a driver for kidney defects in patients with DiGeorge syndrome, the most common microdeletion syndrome in humans, and congenital kidney malformations (New England Journal of Medicine 2017), and TBX6 as driver of kidney and urinary tract malformations in idividuals with the chromosome 16p11.2 microdeletion syndrome (Nature Genetics 2019). My research is funded by multiple Federal and non-Federal agencies, including the National Institute of Health (NIH), the Department of Defense (DoD), the American Society of Nephrology (ASN), the American Heart Association (AHA), and others. I serve as an ad hoc reviewer for multiple NIH Study Sections (NIDDK P20, NIDDK R03, NIDDK R01, and NICHD), DiaComp applications, the Canadian National Institute of Health grant (CIHR), Ireland National Science Grants, and Dutch Kidney Foundation. I also serve as ad hoc reviewer for multiple Journals, including New England Journal of Medicine, Lancet, American Journal of Human Genetics, Nature Communications, Journal of Clinical Investigation, Journal of the American Society of Nephrology, Kidney International, Nature Reviews Nephrology, PLoS One, Pediatrics, Pediatric Nephrology, Human Mutation, Journal of Medical Genetics, Nephrology Dialysis and Transplantation, BMC Nephrology, Clinical Journal of the American Society of Nephrology, American Journal of Kidney Diseases, and others.