We wanted to share a summary of recent discussions about ADSL research, our fundraising efforts, and the path toward future treatments. Our goal is to keep families informed about where we are today, what we know, and what questions still remain. Where We Are Today Rare Birds Foundation is currently focused on advancing the most promising therapeutic approaches for ADSL Deficiency, with gene therapy as our primary research priority. Current evidence suggests that gene therapy

Title Slide for Rare Birds Foundation's conversation with Dr. Xin Chen of UT Southwestern regarding advancements in an AAV-9 Gene Therapy currently in development for the treatment of Adenylosuccinate Lyase Deficiency Disorder (ADSLD). June 3, 2026 This meeting focused on updates from Dr. Xin about the development of a potential gene therapy for people living with ADSL deficiency, an ultra-rare metabolic disorder affecting approximately 163 individuals worldwide. Dr. Xin shar

Dr. Matteo Bordi presents recent research on mitochondrial metabolism in ADSL deficiency, highlighting the complexity of ADSL Deficiency and the need for further research to understand its underlying mechanisms and potential treatments. He explained how mitochondrial morphology and activity are affected in ADSL-deficient cells, with more severe defects in cells from patients with more severe disease. The research team used various models, including human cells, fruit flies, a