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2026 Oxford-Harrington Rare Disease Scholar Award
February 26, 2026
A mother–daughter journey with CASK deficiency highlights what progress can look like when science and patient advocacy align. After decades with no answers, genetic testing finally identified the cause of Noelle (“Noni”) Schulz’s condition: mutations in CASK, a gene essential for brain development. Care has long focused on managing seizures and supporting daily living, with no therapy to address the underlying biology.
Through the Oxford-Harrington Rare Disease Centre (OHC), a transatlantic partnership between Harrington Discovery Institute at University Hospitals and the University of Oxford, OHC Scholar Mingshan Xue is advancing a gene‑replacement approach intended to deliver a healthy copy of the CASK gene. The goal is disease‑modifying treatment that could improve neurological function, motor control, and independence—moving beyond supportive care toward true therapeutic options.
At Harrington Discovery Institute, our role is to pair promising science with hands‑on drug‑development support so potential treatments reach patients faster.
Cynthia ‘Cindy’ Schulz still remembers the moment. Her daughter Noelle—nicknamed ‘Noni’— was a toddler when developmental delays became impossible to ignore. Appointments and tests followed until one day, Cindy opened an envelope containing the neurologist’s blunt assessment: ‘mental retardation’, the ‘clinical’ term used at the time.
“It was a sad sign of the times to receive such crushing news in the mail,” Cindy recalls. “There was no roadmap, no explanation and no treatment plan. Just a label.”
Noni exhibited considerable intellectual and physical challenges: she could walk and talk but could not read or write or do many other simple tasks people take for granted.
When Cindy asked what could be done to change the course of her daughter’s condition, the response was that there were no treatment options, care would be supportive, not transformative or curative.
“It would have been easy to let that destroy us,” Cindy says. “Instead, we focused on helping Noni build a bright, happy life.” -Cindy Schulz
While still needing help with basic daily living, with incredible support from her family (she has three siblings) and her inclusive schooling, Noni developed her superpower: social skills. Now aged 42, Noni lives happily with her parents and has worked for more than 19 years at her part-time job in a local grocery store. Colleagues and customers love her.
It was only when Noni was around 30 years old that genetic testing provided clarity. The cause was a rare mutation in a gene called CASK, which is essential for healthy development of the brain. At the time, only 50 people worldwide had been diagnosed with CASK. Today, the number tops 2,000 and is growing.
In contrast to Cindy’s earlier experience, this time a caring and compassionate geneticist delivered this diagnosis in person, taking time to explain the disorder and answer her questions.
