Ba5-Associated Encephalopathy: A Breakthrough in Understanding & Potential Treatment
Researchers at St. Jude Children’s Research Hospital have made significant progress in understanding Ba5-associated encephalopathy, a rare genetic disorder causing severe developmental delays and seizures. The disorder stems from a recessive gene mutation, frequently enough with one partially functioning copy (hypomorphic allele).
The team created brain organoids from patient cells too model the disease, revealing stunted growth of GABAergic interneurons – cells crucial for balancing brain activity. This imbalance explains the frequent, challenging-to-treat seizures experienced by patients.
Importantly, boosting the expression of the existing, partially functioning Ba5 gene reversed the effects of the mutation in the organoid model, suggesting a promising therapeutic avenue. Ongoing research focuses on optimizing treatment dosage and delivery methods, fueled by strong collaboration with patient advocacy groups. This work offers hope for future treatments for this devastating rare disease.