In Austin, Texas, Casey McPherson balances many roles—musician, entrepreneur, and most importantly, dad to his two daughters, Weston and Rose. But beneath the day-to-day rhythms of family life lies a deeply personal mission driven by an extraordinary challenge. Casey’s youngest daughter, Rose, has a rare neurodevelopmental disease, a diagnosis that forever changed their lives and set him on a path few could imagine.
At ASHG, we shared Casey’s story alongside recent breakthroughs in sequencing technology, highlighting the powerful impact of innovation in the pursuit of answers for families worldwide. As we look towards 2025, Casey’s journey serves as a constant inspiration—a story of resilience, relentless pursuit of understanding, and the profound hope that PacBio sequencing has brought to his family and others.
Rose’s journey
From the start, Rose was full of affection and wonder. Her birth went smoothly, and she seemed to be a healthy baby, filling her family’s days with joy. But as the months went by, Casey and his family started to notice small things that didn’t sit right—subtle signs that slowly gave way to deeper worries. Rose’s milestones came differently than those of other children her age. She didn’t crawl or walk quite the same way, sometimes falling without instinctively reaching out to catch herself. Her pediatrician reassured the family that kids grow at their own pace, but concern deepened into fear when Rose began losing the few words she had. Simple words like ‘mom,’ ‘dad,’ and ‘outside’ slipped away, as though just out of her grasp.
“When she lost her ability to talk, we knew something was very wrong,” Casey recalls. The daily struggles multiplied—seizures, choking episodes, and overwhelming sensory challenges added to the complexity of Rose’s care. Her condition reshaped every facet of family life, from simple routines to big decisions. “Life narrows because everything revolves around meeting her needs,” Casey says. “You don’t go out for dinner, you don’t go on vacation.”
Taking care of Rose quickly became a round-the-clock effort. Nights were broken by the alarms of wearable monitors, warning of seizures or irregular heart rates. Mornings started with lifting her gently from her protective bed, changing diapers, and guiding her through the steps of getting dressed. The physical and emotional strain was overwhelming, but it only motivated Casey and his resolve to find answers to help his daughter in any way he could.
A diagnostic odyssey
Trying to navigate the healthcare system with a child whose symptoms defied explanation was exhausting. Casey described it as a “slow boil,” — a constant stream of endless appointments and referrals. “Nobody tells you how to navigate this,” he explains. “There’s no guidebook for parents trying to understand a rare disease.”
The turning point came when Casey stumbled upon genome sequencing as a possible path to answers. The results revealed that Rose had a rare genetic mutation causing her neurodevelopmental challenges.
“I’ll never forget sitting in the pediatric neurologist’s office with my two girls. Rose was screaming because she hates elevators and doctors’ offices. The doctor looked at me and said, ‘Your daughter has a rare genetic disease. There’s no cure. Good luck.’” That moment was both a relief—finally having an answer—and a devastating blow, as it highlighted the lack of options.
Finding a path forward
For Casey, the results marked the beginning of a new battle. “As a father, you’re willing to throw yourself in front of a vehicle to save your kids,” he says. “But this monster was microscopic. It was within her genetic code.”
This realization set Casey on a journey to uncover answers within Rose’s genome. If the problem lay in her genetic code, then perhaps the solution could be found there as well. Driven by this idea, Casey immersed himself in the world of genomics and drug development and surrounded himself with experts.
“Our first step was doing a deep dive with scientists into her disease and determine what is going to be the best technology to help us find a treatment or cure for her.”
This search led Casey’s team to antisense oligonucleotides (ASOs) and PacBio HiFi sequencing. ASOs are an RNA therapeutic consisting of small, synthetic molecules that bind to the affected mRNA sequences to alter protein expression. Casey likens an ASO to “a Band-Aid on your gene that stops it from making a ‘bad’ protein or helps it make the ‘good’ protein. In Rose’s case, we’re trying to keep her gene from making a bad protein.”
On this path, Casey and his team turned to HiFi sequencing to pinpoint the affected region of Rose’s genome sequence and enable the design of ASO sequences.
From data to hope
“HiFi sequencing has been fundamental to discovering a drug for Rose,” Casey explains. “It gives us the roadmap to design the most impactful treatment possible.” With the data quality and comprehensive insight provided by only PacBio, Casey and his team could identify the best strategy for developing an ASO tailored to Rose’s needs.
PacBio HiFi sequencing technology stood out as a game-changer. “If we’d had access to this earlier, we could have started working on Rose’s treatment years ago,” Casey says. “Now, it’s at the core of our drug discovery process.”
For Casey and Rose, HiFi sequencing provides both a roadmap and the hope needed to persevere in their journey – “It’s easy to look at a platform like Revio and see it only as a powerful tool. But for a parent with a child with a rare disease like me, Revio is hope, it’s a North star.”
Looking to the future
Casey’s mission has grown beyond his own family. Through organizations like the To Cure Rose Foundation and Chrysalis Genetics, he is building a framework to accelerate treatments for other children with rare diseases. His work is rooted in the hope that no family should have to endure the isolation and uncertainty his family faced.
“I wish more people understood how many families are affected by rare diseases,” Casey says. “We call them ‘rare,’ but collectively, these conditions impact millions of children around the world. The technology exists to help them—we just have to reach those who need it.”
For Casey, the future of technology is deeply personal. “I dream of the day Rose can tell me about her day, eat dinner with a fork, or simply feel more at ease in her own body,” he says. With every step forward in drug discovery, that dream feels a little closer to reality.