Medical College of Wisconsin
8701 Watertown Plank Road, Milwaukee
Innovation: CarpeNovo, DNA sequencing software program
Two years ago at Children’s Hospital of Wisconsin, a young boy’s chronic stomach condition was baffling doctors. Time seemed to be running out for the child, as a diagnosis could not be found.
Researchers at the Medical College of Wisconsin jumped in. In the process, they created a technology that is changing the future of medical diagnosis. The program is called CarpeNovo, and it means to “seize the new.”
CarpeNovo is a DNA sequencing software program developed by geneticists in the Bioinformatics Program in the Medical College of Wisconsin’s Human and Molecular Genetics Center.
Created by Elizabeth Worthey, Ph.D., and a team of 10 software developers, the program is an aggregate of information and data from research institutions around the world.
The innovation helps researchers identify variants in a patient’s DNA structure, allowing researchers to determine mutations that are causing the body to malfunction. Previously, doctors would manually sift through data to determine mutations, something that could take years.
“The CarpeNovo software allows us to use a variety of filters to eliminate variants with those familiar types of genetic differences or that have been seen before in medical history,” said Worthey. “It would have taken us 1,000 12-hour days to manually get through those variants. That’s nearly three years, and that was time that little boy probably didn’t have.”
One Medical College doctor was able to make a diagnosis using the software in four days.
Currently, CarpeNovo is only available to Children’s Hospital of Wisconsin patients. A third version of the program is expected to be released this summer.
