During graduate school, Dr. Schuler utilized whole exome and whole genome sequencing to identify genetic changes that could be responsible for undiagnosed genetic disorders in multiple families followed by experimental approaches to causally link those genetic changes with disease. He continues to have an interest in improving our ability to increase the efficiency and accuracy of diagnosing genetic disease. His work focuses on the utilization of biomedical informatics approaches, biobanked DNA, and electronic health record data to identify undiagnosed genetic disease. The goal of this work is to expand our knowledge of phenotypic associations, recognize clinical patterns, and identify ways to improve diagnosis and management of genetic disease.

We are leveraging a large DNA biobank coupled with EHR data to identify patterns of undiagnosed genetic disease. Our work has confirmed the previously reported, disproportionately high proportion of critically ill neonates with an underlying genetic contribution to their illness, that there is an underdiagnosis of these disorders, and that there are means that we can improve application of genetic testing approaches. We are working to identify early developmental phenotypic presentations of genetic disease in critically ill neonates to decrease the morbidity and mortality of this patient population by earlier diagnosis and informed management.

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