On Friday April 14th, we had the pleasure of visiting Dr. Alan Beggs’ Laboratory at Boston Children’s Hospital and formally presenting him and his team with the $30,000 donation we raised from the Caterina Grace Walk in October 2022. Dr. Alan Beggs is the Director of the Manton Center for Orphan Disease Research @bostonchildrens and Sir Edwin & Lady Manton Professor of Pediatrics @harvardmed. Throughout his career, Dr. Beggs has led the discovery of 11 new disease genes resulting in muscle diseases and has pioneered the development of gene therapies targeting muscle myopathies. Genetic muscle diseases are caused by mutations in specific genes. The current goal for treatment is to identify a way to safely deliver a healthy copy of affected muscle gene to diseased muscle cells. Dr. Beggs current work involves using benign adeno-associated viruses or (AAVS) to deliver healthy intact genes targeting entry directly to muscle cells. MyoAAV is a new group of adeno-associated viruses (AAVs) developed by Dr. Sharif Tabebordbar that uses a modified outer protein shell of AAV, known as capsid, to deliver genetic therapies with greater efficiency and at lower doses. Early trials in mouse models have shown success in restoring strength, improving muscle function, and correcting growth, thus increasing lifespan for mice carrying the corrective gene in both Myotubular myopathy and Duchenne muscular dystrophy. This promising treatment is now currently being tested in human cells in the laboratory and has the potential for targeting treatment for other organs thereby providing a potential treatment for a wide range of genetic conditions!
Your donations mean so much and it is with such great joy, pride, and honor that we can provide funding for our late daughter’s rare muscle disease by contributing to this crucial research! Every dollar truly does count and is such a significant contribution to the hope of one day providing a normal life to those affected by horrific muscle diseases.
Our late daughter, Caterina possessed a de novo mutated copy of her ACTA1 gene resulting in the severe muscle disease – Nemaline Myopathy. This disease affects 1 in 50,000 births and 66% of children do not live past their 2nd birthday. Our foundation raises awareness and provides funding toward targeted therapies in her honor.