A team led by Rutgers University-New Brunswick engineers has developed a portable device capable of detecting rare genetic mutations from a single drop of blood. The instrument, described in a study published in Communications Engineering of the Nature Publishing Group, was shown in lab experiments to quickly and accurately test for a genetic condition called hereditary transthyretin amyloidosis, which can cause heart problems.
The disease is caused by a genetic mutation in the transthyretin gene. This mutation can lead to heart failure, especially in people of West African ancestry. Detecting this mutation early is important because there are treatments available.
“Traditional genetic tests can take days or weeks to give results, which isn’t ideal for quick diagnosis,” said Mehdi Javanmard, a professor and Paul S. & Mary W. Monroe Endowed Faculty Scholar with the Department of Electrical and Computer Engineering in the Rutgers School of Engineering. “This research aims to develop a faster, cheaper and easier test that can be done during a regular doctor’s visit.”
The device, which amplifies nucleic acid segments and detects mutations using a microchip, was developed in collaboration with Curt Scharfe and his team at Yale University. This new technology aims to bring a device equal to the performance and accuracy of a polymerase chain reaction (PCR) test, typically confined to laboratories, into doctors’ offices, homes and community centers. To read the full story.