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Tracy I. George, MD, ARUP Laboratories’ chief scientific officer and president of the Innovation Business Unit, detailed ARUP’s commitment to cutting-edge diagnostic research during a Rare Disease Day event hosted at Recursion on February 27. The podium featured a zebra, the mascot of people with rare diseases.
ARUP Laboratories is committed to advancing diagnostic research and innovation in support of people with undiagnosed and rare diseases. That’s the simple message Tracy I. George, MD, ARUP Laboratories’ chief scientific officer and president of the Innovation Business Unit, shared during an event commemorating Rare Disease Day on February 27 at Recursion in Salt Lake City.
“ARUP is doubling down on research and innovation, because we know that it’s important,” George told the gathering of patients with rare diseases, their supporters, and advocacy groups like the Utah Rare Disease Advisory Council and the Rare and Undiagnosed Network.
Last year, the ARUP Institute for Research and Innovation in Diagnostic and Precision Medicine™ created the Sherrie Perkins Research and Innovation Collaboration Grant to fund cutting-edge research in laboratory medicine that has the potential to significantly impact patient care. During Thursday’s event, George revealed that one of the first grant recipients was working on a project that utilizes whole genome sequencing in collaboration with the Undiagnosed Diseases Network.
“What we want to do with whole genome sequencing and other, newer technologies is take undiagnosed patients and make them rare disease patients. Because once we know the genetic cause of the disorder, then we can target it, then we can work with partners to start talking about treatment,” she said.
Genetic testing is just beginning to bring answers to patients like Michael George, a University of Utah biology major who has been coping with “stuff” since the day he was born. Despite his undiagnosed health issues, he was an active child and participated in soccer, ballet, gymnastics, and marching band. But as he grew older, he began to experience more pain with walking—to the extent he began relying on a mobility chair.
“Later, I found out walking wasn’t supposed to be painful. At the time, I just thought everyone hurt to walk,” he said. After years of worsening symptoms, Michael George was diagnosed with twisted femurs in combination with a connective tissue disorder, and surgery set him on a path to regaining mobility.
Pain with walking was just one aspect of his health issues, and he’s still searching for an overarching answer. Genetic testing gave him one answer when he discovered that both he and his sister have a deletion of a crucial protein.
“Even in genetic testing, when you do get a piece of the puzzle, there can still be a whole lot of confusion,” he said. “We’re working to figure out how this affects our condition and what other pieces are out there.”
ARUP’s Dr. George said that helping patients find answers is why she has devoted her career to rare diseases. “And I’m just one medical director. There are more than 100 medical directors at ARUP like me, all with interests that span the diagnostics space, all with different areas of expertise.”
Up to 30 million Americans are living with a rare disease, according to the National Organization for Rare Disorders (NORD). Thursday’s event marked the third annual Rare Disease Day event hosted at Recursion as part of a global initiative to raise awareness and generate change for those living with rare diseases.
Heather Stewart, heather.stewart@aruplab.com
