Landon’s League Foundation is dedicated to supporting the development of treatments for rare pediatric genetic diseases and helping those affected by CAMSAP1-related disorder providing adaptive equipment to assist daily living activities. Landon and eight other children worldwide have been identified to share the same unnamed condition caused by inheriting two abnormal copies of the CAMSAP1 gene. This condition/disease causes several issues including seizures, microcephaly (small head size), global developmental delay, severe neurodevelopmental delay, and vision impairment.
The University of Alabama at Birmingham (UAB) Center for Precision Animal Modeling (C-PAM) is collaborating with the Landon’s League Foundation research team to generate a mouse model with an early truncation and find therapies that can be repurposed for treatment. While the mouse model is underway, C-PAM researchers shared drug predictions using artificial intelligence (AI) reasoning tools like mediKanren and NCATS Biomedical Translator, that have since been tested through a low-throughput drug screen in an existing CAMSAP-deficient worm model developed by Dr. Jana Marcette at Montana State University Billings. Three of the candidates were found to rescue the convulsion phenotype that was observed in the CAMSAP-mutant worms. As the Landon’s League research team continues its investigation into drug repurposing candidates, UAB C-PAM is working to generate a mouse model to further this research.
To read the full article and learn more about Landon’s League’s drug therapy trial breakthroughs, visit Landon’s League news.
