Junior Brian Heligman works with an initiative to save infants from certain urea cycle illnesses.
Urea cycle disorders, a class of rare diseases often seen in newborns, are often misdiagnosed, which can lead to death or a drop in IQ.
These children might vomit, fall into a coma or have seizures as a result of the defect, which causes ammonia in blood to rise to dangerous levels.
And for the past three years, junior Brian Heligman has been working with a team of University of Maryland researchers to study this class of defects and develop a device to detect this disease in newborns.
“It can cause a lot of problems for infants, as they are in a really developmental stage,” the materials science and engineering major said. “Right now it’s a really rare disease.”
Geneticists from Children’s National Medical Center initiated the project, expressing the need for a simple device to measure for blood metabolites that affect children who have the rare disease, said Omar Ayyub, who received a bioengineering doctorate from this university in 2014.
The team hopes to start clinical trials next week on patients at Children’s National Medical Center, Heligman said.
“We kind of just dove into it, and that’s kind of how we got to where we are today,” Ayyub said.
Heligman works as a research assistant to develop this tool. He began working on the project after his ENES100: Introduction to Engineering Design professor, Peter Kofinas, brought him on the team.
“It’s exciting that [Heligman] can help make a device that can make such a difference,” said Kofinas, the bioengineering associate dean.
The device measures blood ammonia levels without any sample preparation. Placing the blood next to a membrane that pulls out the ammonia allows the researchers to study just the ammonia. Then they use a reaction that changes color based on the amount of ammonia, and they can qualify the levels of the blood, Heligman said.
The device is expected to be inexpensive, and it could cost as little as a few dollars per test, Heligman said.
“It should be able to give an accurate reading within 10 to 15 minutes,” he said.
Children with these rare diseases do not have many options, and they need to travel to major hospitals to have blood work done, Ayyub said.
The device will help reduce hospital visits, which is crucial, especially for infants, as more time in the hospital increases the risk of infection.
“If you don’t get treatment it can cause death, and in some cases after an episode, an average IQ can drop to 45 if it isn’t treated,” Heligman said.
The researchers hope the device can reach other countries that are unable to afford the medical equipment needed to screen for urea cycle disorders.
“[This device] will help make the management of condition significantly easier, and diagnosis,” Heligman said.
The team submitted a paper in February to Molecular Genetics and Metabolism, the official journal of the Society for Inherited Metabolic Disorders. The journal is expected to publish the paper next month to inform other researchers about the developments, Heligman said.
“[It’s] really neat because we are making a sensor that can potentially save lives and can be used for newborn screening,” Kofinas said.
