St. Jude Children's scientists use brain organoids to study rare encephalopathy

St. Jude Children's scientists use brain organoids to study rare encephalopathy

While extremely rare, encephalopathy (a condition affecting brain function) triggered by mutations in the UBA5 gene has devastating impacts, with affected individuals reaching few developmental milestones and experiencing frequent and early-onset seizures.

Unique model of rare epileptic disease helps pinpoint potential treatment route

While extremely rare, encephalopathy (a condition affecting brain function) triggered by mutations in the UBA5 gene has devastating impacts, with affected individuals reaching few developmental milestones and experiencing frequent and early-onset seizures.

Unique Model of Rare Epileptic Disease Helps Pinpoint Potential Treatment Route

Scientists at St. Jude Children’s Research Hospital developed a cortical organoid model for UBA5-associated encephalopathy, revealing a new way to possibly address developmental defects.

She Thought Her Baby Was Just Small: Then Doctors Discovered A Rare Brain Disorder

Kaylee thought her newborn daughter was just small—but months later, doctors discovered a rare brain disorder that no prenatal test had detected. This is Poppy’s story.