Made Harumi Padmaswari, MD
A New Approach to Treating Muscle Diseases with Lasting Therapeutic Genes
Summary
Duchenne muscular dystrophy (DMD) is a genetic disease that mainly affects young boys. The DMD gene, the largest in our body, has mutations scattered throughout, making it tough to fix just one type. These mutations cause a lack of functional dystrophin protein, leading to muscle damage and deterioration. Current clinical trials aim to deliver a shorter but functional version of dystrophin called microdystrophin. Although the results are promising, the therapy does not last long term because the protein is supplied from outside the body.
To address this, my project aims to create a universal platform for integrating therapeutic genes into a specific spot in muscle cells so the gene can be produced internally. This site has a strong muscle gene promoter, ensuring the integrated gene is expressed well and safely. We’ll evaluate the safety and efficiency of this approach and optimize the design of integration. This innovative method could potentially lead to a secure and lasting recovery of dystrophin expression, opening new possibilities for treating muscle diseases.
It is an honor to be selected as a PhRMA Foundation predoctoral fellow. This predoctoral fellowship means a lot to me as it supports my journey as a physician-scientist and my efforts to develop new strategies for genetic disease therapy, especially for muscle dystrophy.
