SLC13A5 citrate transport disorder causes severe neonatal seizures due to disrupted citrate balance in the brain. This research uses mouse models to show excess citrate worsens seizures and explores gene replacement therapy to restore transporter function. Early results show reduced seizures, with human clinical trials beginning soon.

This thesis explores the challenges faced by young people with rare chronic kidney diseases as they transition from pediatric to adult healthcare. The researcher works to support families, improve preparedness, and ensure no young person is left behind, aligning with global goals for equitable, inclusive healthcare for vulnerable populations.