Catherine E Cottrell, PhD

Catherine Cottrell, PhD, is a senior director within the Institute for Genomic Medicine at Nationwide Children’s Hospital. She is an associate professor-clinical within the Departments of Pathology and Pediatrics at The Ohio State University. She is dual certified by the American Board of Medical Genetics and Genomics in the specialties of Clinical Cytogenetics and Clinical Molecular Genetics. She completed her fellowship training at The Ohio State University and Nationwide Children’s Hospital in Columbus, Ohio. Following the conclusion of her fellowship, Dr. Cottrell assumed a faculty position in 2011 at Washington University (WU) School of Medicine in Saint Louis, Missouri. In the six years she spent at WU, Dr. Cottrell most recently served as director of the Cytogenetics and Molecular Pathology Laboratory, and as an associate professor in the Department of Pathology and Immunology, and Department of Genetics. While at WU, Dr. Cottrell focused on studies of cancer cytogenetics and somatic variant interpretation. Under her direction, WU was among the first academic laboratories in the US to launch a clinical next-generation sequencing assay for the detection of somatic variation in the setting of cancer. She returned to Nationwide Children's in 2016 with an interest in the development of new clinical diagnostic tests, with a particular concentration on sequencing assays.

While at Nationwide Children's, she contributed to the successful validation and launch of clinical whole exome sequencing, an assay utilized in the laboratory for patients with suspected, but undiagnosed, genetic disease. Her current clinical and research emphasis includes constitutional and somatic genomic analysis in human disease, and best practices in genetic variant interpretation. She is actively involved in the study of mosaicism and disease, with a focus on vascular overgrowth syndromes and novel genotype-phenotype relationships. She currently serves as principal investigator of the IGM translational protocol, Comprehensive Profiling for Cancer and Blood Disorders, aimed at genomic analysis in patients with rare and refractory hematologic disease or cancer. Through a patient focused methodologic approach to the study of disease, this protocol allows for impactful changes in patient management as related to diagnosis, prognosis or treatment regimen on the basis of the obtained genomic analysis.