For most parents, their child’s fifth birthday marks a happy milestone. But for Tommy Pham, it is a bittersweet one for his son Raiden. He was born with a mutation in the UBA5 gene, which is critical for protein manufacturing and processing within cells. As a result, Raiden cannot sit, walk, talk, or feed himself, and requires 24/7 care.
Raiden’s uncertain future, combined with a lack of science surrounding his ultra-rare condition, spurred Tommy and his wife, Linda, to form the Raiden Science Foundation (RSF). The foundation networks with scientists and fundraises to support research on UBA5 Disorder, including building a patient network, creating animal models, repurposing drugs, and creating a gene therapy.
RSF, through a grant in partnership with CURE Epilepsy, is also banking on another method to directly study the effects of UBA5 mutations in human brain cells: brain organoids.
