Imagine experiencing debilitating, life-threatening symptoms but not knowing the source of what’s triggering them. Back-to-back doctor visits and medical testing take place in hopes of finding a diagnosis, but each effort leads to frustrating dead ends.
This is a distressing reality shared by nearly 200,000 people in the U.S. living with rare illnesses.
Joining a team of researchers and physicians helping to solve the most challenging medical mysteries is Tomás R. Guilarte, dean of the FIU Robert Stempel College of Public Health & Social Work. Guilarte was appointed in February to serve on the External Advisory Committee of the Undiagnosed Disease Network (UDN), a research study funded by the National Institutes of Health working to improve diagnosis and care of patients with undiagnosed diseases.
“The emotional and financial toll brought on by an undiagnosed disease places a significant burden on patients and their families,” said Guilarte. “I am honored to join UDN in their mission to empowering patients and their families with the knowledge needed to get them closer to a diagnosis and care that meets their unique needs.”
Guilarte is renowned for revealing the effects that low-level lead exposure has on the central nervous system during brain development, a discovery that led to strategies for mitigating learning deficits.
As part of the advisory committee, he will help provide recommendations of new environmental assessment approaches that together with genomic screening—a test which checks DNA for specific genetic information linked to diseases— could advance the diagnosis of new and rare diseases. He will bring decades of experience in studying how environmental factors and their interactions with our genes may produce observable traits of a disease.
Over the years, the UDN had been primarily focused in determining the genetic bases of rare disease. However, more recently, the network is considering new methods to assess environmental exposure to help diagnose new and rare disease that may have an environmental component.