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

Dr. Pandey discusses how genetic enzyme deficiencies can act as critical drivers of complement activation and inflammation in distinct metabolic disorders. In Gaucher disease, deficiency of the lysosomal enzyme glucocerebrosidase leads to pathological accumulation of glucosylceramide, which triggers complement activation and drives both visceral and neuroinflammatory responses. Similarly, in ADSL deficiency disorder (ADSLDD), loss of adenylosuccinate lyase (ADSL) function re