In early May, a late-spring snowstorm frosted the newly green trees and covered the roads in slush. But that didn’t stop 120 intrepid scientists from making it out to the 2024 Center for Genomic Medicine (CGM) symposium, where the atmosphere was anything but chilly. Amid the snow-covered foothills, researchers shared how they’re using Utah’s uniquely strong genetics resources to answer fundamental biological questions and develop solutions to urgent issues in human health.
CGM is a wide-reaching program that connects the Utah Genome Project, the Utah Center for Genetic Discovery, and the Utah Population Database, among others. Despite the organization’s broad scope, the center shares a common goal, said co-director Lynn Jorde, PhD, professor and chair of human genetics in the Spencer Fox Eccles School of Medicine (SFESOM): “to transform health care by using basic research and genomics to improve diagnosis and therapy.” Jorde added, “Our goal is to establish practices that will benefit everyone equitably and equally.”
Saving lives by early genetic screening
For some genetic diseases, detecting a condition as soon as possible makes a vital difference. Spinal muscular atrophy (SMA) is one such disease: lethal within a few years if left untreated but treatable if gene therapy is started early, said Kristen Wong, CGC, genetic counselor in pediatric neurology in SFESOM. Wong gave an overview of the U’s SMA screening program since its implementation in 2018. Diagnosis within days after birth has allowed kids to get treatment before symptoms develop, helping them live full lives.
Biliary atresia, a serious condition in which the liver does not connect appropriately to the gut, is another case in which early diagnosis and intervention is critical, said Stephen Guthery, MD, professor of pediatrics in SFESOM. Starting in 2020, Guthery conducted a pilot program that showed that screening newborns for the deadly disease is feasible.
For these and all cases of pediatric personalized medicine, it’s critical that new treatments are responsibly implemented to avoid making health disparities worse, added Josh Bonkowsky, MD, PhD, professor of pediatrics and neurology in SFESOM. Improvements to cost equity for diagnoses and treatments could help address this, Bonkowsky said.
Uncovering risk factors throughout life
Other researchers were investigating people’s genetics to try and find hallmarks of deadly health issues that occur later in life. Jason Glotzbach, MD, assistant professor of surgery in SFESOM, has used the Utah Population Database to search for genetic risk factors for aortic dissection, an acute and extremely life-threatening disorder of the body’s largest artery.
Meanwhile, Anna Docherty, PhD, LP, associate professor of psychiatry in SFESOM, is working to find risk factors for a condition that most would not expect to be affected by genetics: suicide.
Predicting risks from genetic and other factors is an extraordinarily complex task. Raquel Reisinger, PhD, MD/PhD student in human genetics, thinks explainable AI could be a solution. Reisinger is using AI models that visually show the relationships between risk factors to understand the connection between atrial fibrillation and stroke risk.
Understanding human biology by heading off the beaten path
Other researchers sought to uncover fundamental aspects of human health by looking to unconventional sources of information. Christopher Gregg, PhD, associate professor in neurobiology in SFESOM, is investigating the genetic factors that affect metabolism, which could reveal new drug targets for many metabolic disorders. To discover these genetic factors, Gregg studies mammals that hibernate, which can drop their metabolism to very low levels and then kick back into high gear without negative health consequences.
Humans, on the other hand, aren’t generally considered extreme model organisms. But Melissa Ilardo, PhD, assistant professor of biomedical informatics in SFESOM, thinks differently. She works with indigenous diving communities, such as the Haenyeo divers of South Korea’s Jeju Island, to understand how human populations have genetically adapted to intense evolutionary pressures.
Same resources, different questions
At the poster session following the research talks, graduate students, professors, research scientists, and more mingled to share their work, spark new collaborations and mentoring opportunities, and discuss the day’s events.
Nikki Russell, PhD, postdoctoral researcher in human genetics, was struck by how the uniquely rich genetic data available through the CGM had allowed researchers to tackle wildly different problems in human health and basic research. “We have these giant pedigrees and giant family data,” she said. “We have a wealth of genetic information. But with the same resources, we can look at so many different things, from ALS and atrial fibrillation to suicide research.”
When so many people are using these resources for so many projects, responsible data sharing becomes critical, said LeeAnn Dempsey, genetic counseling assistant in pediatric neurology. In such an environment, productive collaboration and timely communication, like that showcased at the symposium, can make a big difference. “This is a chance to hear about a lot of the hottest updates in the field,” Dempsey added.