Reaching for His Full Potential

Jill Hawkins periodically receives this text message from her son Nash: “Mom. This is where the flies live.”

Nash texts this to his mother when he’s walking around the University of Utah campus. He includes a photo of the building housing the lab of Clement Chow, PhD, a space where research on genetic disorders takes place. Some of this research uses fruit flies to help find treatments for ultra-rare genetic diseases.

Hawkins’s husband, Doug; Nash, a senior majoring in business and computer science; and Hawkins have all visited Chow’s lab, learning firsthand how patient-driven research might one day produce a drug that treats genetic disorders like those caused by a mutation in the FAM177A1 gene.

The FAM177A1 disorder is a nano-rare disease affecting only about 20 known individuals worldwide, including two of Hawkins’s children, Charlotte and Cooper. They suffer from global developmental delays, seizures, and progressive motor decline—a devastating reality that initially left the family with no answers and no path to treatment.

“Every day is a battle for Charlotte and Cooper,” Hawkins says. “They need assistance with all aspects of daily living.”

A FAMILY CONNECTION

A tireless advocate for her children, Hawkins created the FAM177A1 Research Fund and partnered with Chow, who also serves as associate professor of human genetics at the Spencer Fox Eccles School of Medicine.

“We love the U. Nash loves being a student there. It’s so impactful for our son to be on campus and see the lab—to know someone is working on this disorder for his siblings,” Hawkins says. 

The partnership with University of Utah Health holds special significance for Hawkins.

“This is a shared mission to change the lives of our children,” she says. “We’re actively working with the lab, and it gives us hope to know that we are not alone in this fight. The collaboration allows us to combine our urgency with Chow’s expertise to find answers.”

Chow’s lab is researching drug repurposing in its search to treat rare genetic disorders. Frustrated by the slow pace of traditional research, the lab looks at existing drugs for answers, testing these FDA-approved drugs on disease models to find immediate therapeutic options. This approach resonates with Hawkins’s urgency.

“What if there’s a drug sitting on a pharmacy shelf that might work for Charlotte and Cooper, and what’s an efficient way to figure that out?” she asks. “We look at the list of potential drugs and decide together with the lab which ones to test, and with every iteration, we gain more information and feel one step closer to a treatment.”

The collaboration between Hawkins’s foundation and Chow’s lab goes both ways. Known for its scientific rigor and rapid execution, Chow’s team developed a fruit fly model (a “patient avatar”) of the FAM177A1 deficiency. This model revealed a stark phenotype: 100% of male flies died before reaching adulthood. The lab then screened thousands of FDA-approved drugs, yielding a list of over 30 compounds that significantly improved the flies’ health.

“Working with families and foundations like Jill’s is essential for making progress in rare diseases. Scientists need to work hand in hand with those living with these diseases,” Chow says. “Our partnership with Jill and her foundation has been incredible and demonstrates to trainees and staff in my lab what working with stakeholders can accomplish.”

A particularly exciting accomplishment, Hawkins says, was that over 60% of the top hits were related to the acetylcholine pathway, providing a crucial, unbiased clue about the disease’s underlying biology and potential therapeutic targets—a discovery that could have taken decades through traditional research. 

“Chow’s work gave us a ‘hit list’ of drugs that could potentially work for our disorder. We tried the top hit on our daughter,” Hawkins says. “We haven’t seen any immediate signals that it’s effective for her, but the research has illuminated previously unknown aspects of the understudied disorder and set a blueprint for taking scientific findings and translating them directly to patients.”

ON THE MEDICAL MAP

In the medical field, rare diseases pose significant challenges. As defined by the U.S. Food & Drug Administration, each rare disease impacts fewer than 200,000 people in the country. That small number makes it difficult for pharmaceutical companies to use standard approaches to develop and test treatments—or to justify the expense of finding new ways to treat these diseases.

“This is a shared mission to change the lives of our children ... we’re actively working with the lab, and it gives us hope to know that we are not alone in this fight. The collaboration allows us to combine our urgency with Chow’s expertise to find answers.”

Yet collectively, rare diseases are a significant burden. More than 7,000 rare diseases—and possibly as many as 10,000—affect 10% of the US population. The treatment gap leaves individuals who have rare diseases with few places to turn.

“Nobody was working on our disorder, and it fell on our family to drive this research. Chow sees the value and power of patient-driven research and drug development, and he partners with patient organizations like ours to accelerate our missions. We are so appreciative of that.”

Chow says that as his lab moves forward, they will test more drugs in FAM177A1 fly models and work on discovering the mechanism of action for these drugs.

“Jill’s foundation provided the funds for us to do this important work, but the relationship has continued beyond the funded work,” he explains.

Before the collaboration, Hawkins and her family felt defeated. She wondered if she was doing enough to help her children.

“When I watch our kids continue to have daily seizures and see them losing their ability to walk, it’s terrifying,” Hawkins says. “Research is the antidote; we are now on the medical map for this disorder. What keeps me going is the research and the hope that it’s going to come through—if not for Charlotte and Cooper, then for the next family.”