
MidAtlantic Bioinformatics Conference

Friday November 7, 2025
Ernest Turro, PhD

Associate Professor
Genetics
Icahn School of Medical Sciences
Mt. Sinai
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Dr Turro is an Associate Professor and the Arthur J and Nellie Z Cohen Professor of Pediatrics (Genetics) in the Department of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai. His research focuses on the development and application of statistical methods for making biological inferences from genomic, cellular and clinical data. He has contributed towards discovering and understanding the genetic etiologies of a wide range of rare diseases. For example, his team discovered that variants in RNU4-2 cause the dominant neurodevelopmental disorder (NDD) ReNU syndrome and that variants in RNU2-2 cause dominant and recessive forms of ReNU2 syndrome. ReNU is among the most prevalent monogenic NDDs and recessive ReNU2 is the most prevalent recessive NDD ever discovered. He has worked extensively on the genetics of inherited hematological disorders and on mitochondrial genetics. He established NICUnet, a network of 16 neonatal intensive care units in the United States to study the genetic basis of neonatal fatalities. Previously, he led the bioinformatic component of a molecular diagnostic platform for patients with bleeding and platelet disorders called Thrombogenomics. He has also led large genetic studies of platelet-related phenotypes and cardiovascular outcomes. Earlier in his career, Dr Turro developed several influential statistical methods for modeling microarray and sequencing-derived gene expression data. He is a named author on 72 peer-reviewed journal articles (10 as first author, 18 as last author), including work as a senior author in Science, Nature, Nature Medicine, Nature Genetics, Blood and the American Journal of Human Genetics.