“The current state of rare disease work is that there isn’t enough people working on any of them,” said University of Utah human genetics professor Clement Chow. The lack of rare disease funding and research has led many families and foundations to think outside the box and find ways to support the research themselves.

Chow and his lab have worked with many of these families and foundations since he came to the U in 2015. “It brings a new urgency to the work for people in my lab, which I think is good,” Chow said.

His lab is focused on developing precision medicine for rare diseases and discovering genetic variations that cause people to react differently to the same disease. “The patients are individuals, so we treat them as individuals.”

Boldly going where no researcher has gone before: Kent Lai

University of Utah Pediatrics Professor Kent Lai found his inspiration to pursue rare disease research and therapeutic development aboard the USS Enterprise. After growing up as a “Trekkie,” the iconic Star Trek phrase, “To boldly go where no man has gone before,” has been ingrained in his brain ever since.

“Rare diseases are often understudied and least explored, so this really fits well to me,” Lai said. “Rare diseases represent plenty of new research opportunities for researchers like me who love adventures and really want to make an effort and a real impact on patients through basic and translational research.”

The Lai Lab studies rare inherited metabolic disorders like Classic Galactosemia and Phosphoglucomutase I Deficiency. This includes both research into the disease pathophysiology (the study of how diseases affect the body’s functions) as well as preclinical development of therapies.“I hope one day we can really help the patients with these rare diseases.”