Despite all the tools available for the clinical diagnosis of neurodevelopmental disorders, about half remain undiagnosed”, states Dr. Stefan Rentas, first author of a recently published article in GIM. For many patients with neurodevelopmental disorders, a genetic diagnosis doesn’t come easy. Genetic testing often comes back negative, even when a Mendelian disorder is very likely, leaving more than half of patients undiagnosed. One explanation is that researchers simply haven’t found all the variants that can cause a disorder, but the disorder could also be caused by non-coding regions of the genome that aren’t examined with current techniques. That’s why Dr. Rentas and his colleagues at the Children’s Hospital of Philadelphia turned to RNA sequencing. By looking at gene expression through RNA sequencing, instead of just the genes themselves, abnormalities in the functional output of those genes can be discovered. In this month’s GenePod, host Cynthia Graber chats with Dr. Rentas about how his team successfully diagnosed several of these patients through RNA sequencing, and what a genetic diagnosis really means.
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