Gene Therapy

Genes are the DNA-based blueprint of the human body. Our genes provide the information cells use to grow and function. In some cases, the cellular expression of aberrant proteins is caused by corrupted or missing genes, or by faulty modifications to the downstream products of genes. Traditional pharmaceutical-based treatments typically modify components of the cell or its environment to induce a therapeutic response. Gene therapy, however, is focused on utilizing viral-based technologies that deliver therapeutic genes to human cells or tissues to directly correct the genetic defect. These viral based technologies, known as vectors, have naturally evolved capabilities to deliver therapeutic genetic material to living cells.

Pompe Disease

Pompe Disease is an inherited rare disorder (< 1:40,000 births) caused by the deficiency of acid-alpha-glucosidase (GAA) in muscle. This deficiency results in the accumulation of glycogen in organs and tissues, especially muscles, which can impair their ability to function normally. While enzyme replacement has shown promise in patients with infantile-onset Pompe disease, no curative therapy is available. More information on Pompe disease is available at: https://ghr.nlm.nih.gov/condition/pompe-disease.

Team Publications

Low-dose liver-targeted gene therapy for Pompe disease enhances therapeutic efficacy of ERT via immune tolerance induction. Mol Ther Methods Clin Dev. 2017;4:126-136.
http://www.sciencedirect.com/science/article/pii/S2329050117300049