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.
“By definition, 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 (PGM1) 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. “It’s been a lot of fun for me, and I really like what I'm doing,” Lai said. “I hope one day we can really help the patients with these rare diseases.”
While the patient populations for the diseases his lab studies are small, Lai believes the impact his research has is just as important as the research done for any other disease. “To me, this is exactly why I can make a real impact for this patient population, who actually need help most, because they don't have many other people to help them,” he said.
The diseases he studies can have devastating consequences just like any other disease. For example, a female patient with Classic Galactosemia could experience early menopause at age 20 or for both genders, severe coordination problems. With PGM1 deficiency, patients can develop heart failure as young as 2 or 3 years old.
“If someone's beautiful little daughter is dying of heart failure because of a rare genetic disease, I bet the agony and despair this person feels will not be anything less than someone whose daughter is dying of cancer,” Lai said. “Just because there are less patients being affected, doesn't mean that the disease burden is less.”
Just because there are less patients being affected, doesn't mean that the disease burden is less.
Many of these rare genetic diseases don’t have a cure or even a treatment, but Lai is dedicated to doing his part to improve the lives of these patients. “A lot of times pharmaceutical companies are not necessarily interested in helping make therapies for them because of market size, so in a sense that if I don't help them, they might have one less advocate.”
Lai’s lab is working on multiple different projects to accomplish the goal of improving patients’ lives. The lab uses mouse models of the diseases to better understand how the disease works and then identify potential treatments.
Lai’s work has resulted in technologies being licensed to companies and collaborations with multiple industry partners. “It is definitely a good feeling to realize that your work is not only recognized by grant reviewers, but also by colleagues in the industrial sector, who believed that one day your work can have an application in improving the outcome for the patients,” he said.
The foundation of Lai’s involvement in commercialization is his goal to find therapies for those with rare genetic diseases, and he encouraged other university faculty researchers to always look for a translational angle in their research. “You never know. A lot of discovery is very fortuitous and serendipitous.”
If it was just up to me, I would never get anywhere close to where I am at now if I do it by myself.
PIVOT Center Associate Director of Innovation & Commercialization Aaron Duffy has worked with Lai to help commercialize his research and connect him to industry partners.
“Those suffering from rare diseases need passionate trailblazers like Dr. Lai working on solutions,” Duffy said. “One of PIVOT’s missions is to find equally impassioned industry partners to compliment and accelerate the effort towards the clinic. It is exciting when these matches happen, and we see our new partners aligned in this purpose.”
Lai said he appreciates working with PIVOT, because he is able to draw on PIVOT’s expertise to guide and support him through the process.
“Academic researchers like me don't really necessarily have the skills, experience and knowledges—not to mention time—to really dedicate to the complex commercialization process,” Lai said. “If it was just up to me, I would never get anywhere close to where I am at now if I do it by myself.”
