Rare & Research
What is UBA5 Disorder?
UBA5 disorder is an ultra-rare disease discovered in 2016, with only about 40 known cases globally, and likely many undiagnosed. The disease is caused by the mutation of the UBA5 gene. To learn more about the science of the disease, read here.
Every child affected by UBA5 disorder is unique. Symptoms include severe movement disability, cognitive impairment, seizures, and other debilitating complications that affect the respiratory, vision, and gastrointestinal systems. UBA5 disorder can be misdiagnosed as quadriplegic cerebral palsy.
The life expectancy for children affected by UBA5 disorder is unknown, but we have witnessed the passing of one of our beautiful warriors as early as 1 year old. Since the Summer of 2022, we have lost 11 children within our small community.
Did you know?
200 M
children are affected by rare diseases around the world, and UBA5 disorder is just one among them.
95%
of the 10,000+ rare diseases have no approved treatment, and UBA5 disorder is part of that statistic
"Our UBA5 research brings together experts from across disciplines and across the globe. This work is transformative in its own rights, but also set a precedent that will touch the lives of so many more rare disease families in the future"
Dr. Jonathan Pruneda, OHSU
UBA5 Research
