Simone Sanna-Cherchi, MD
Year elected: 2018
Current membership category: Active
Columbia University
1150 St Nicholas Avenue
New York, NY 10032
United States of America
Phone: 212-342-3134
Email: ss2517@columbia.edu

Biographical statement

I am an Assistant 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) and pediatric chronic kidney disease (Journal of Clinical Investigation 2015). We also successfully applied next-generation 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), steroid resistant nephrotic syndrome (Kidney International 2011), and atypical hemolytic uremic syndrome (Journal of the American Society of Nephrology 2014). Most recently, 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). 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, 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.

Institutional affiliations

Columbia University College of Physicians & Surgeons (Primary)

Specialties

Medicine