It is hard for a parent to watch their child suffer from a disease and even more difficult when doctors don’t have answers. Tara Maga is working to provide those answers.

The University of Iowa Ph.D candidate in genetics is researching genetic mutations that cause atypical hemolytic-uremic syndrome (aHUS). Though researchers have identified some of the genes that cause the disease, it’s not always possible to detect those genes in patients. As a result, finding an effective treatment remains difficult.

aHUS, a rare condition affecting young children, is caused by genetic mutations that lead to the deregulation of the body’s defense system against pathogens, causing the body to attack its own cells. This potentially fatal disease affects roughly 600 patients in the United States, with around half experiencing kidney failure.

“It’s important to get patients and their families answers so we can know if a kidney transplant is an option for treatment,” Maga said. “Not only is a transplant very expensive, it’s physically and mentally exhausting, especially for a child who is sick. So if the patient is going to relapse, and we can predict this, then we should avoid these transplants.”

Currently, six genetic mutations are known to lead to aHUS, in addition to certain environmental triggers. While researchers can attribute the disease to one of these genes in about 50 percent of cases, in those people who screen negative for these mutations, it is thought that the disease is caused by an additional gene that has yet to be identified. Though children are typically affected by aHUS, certain environmental stimulants—such as pregnancy—can trigger the disease in adults.

In an effort to aid those patients, Maga is examining clinical cases for which doctors do not have answers. Maga examines multiple genes at once through a targeted capture process. This allows her to look for mutations in over 80 genes in order to find the one that is responsible for the disease. Her research will help doctors make more educated and effective decisions on patient care.

Richard Smith, professor and vice chair in the UI Department of Otolaryngology and Maga’s mentor, said the important work Maga is conducting not only helps scientists gain a better understanding of the conditions and treatments for aHUS patients, but could lead to insights into other diseases.

Maga said the world of genetics is going to change how doctors practice medicine. When she first came to the UI, a professor predicted that one day patients would provide doctors with their personal genome sequence as basic information upon which to base treatment. Maga said at the time she didn’t think it was likely. But over time and as research has progressed, she’s beginning to reconsider.

“You know, I don’t think that’s actually that crazy anymore,” she said.