A major challenge for developing a treatment for neurological disorders is that the blood-brain barrier (BBB) blocks access of traditional drugs to the CNS. Fortunately, previous studies have proven that some adeno-associated virus (AAV) serotypes, such as AAV9, are capable of efficiently entering the CNS. In addition, recombinant AAV (rAAV), an engineered AAV that lacks the viral genes essential for AAV’s life cycle, is shown to be non-pathogenic and safe in various animal models and in human patients. Thus, rAAV-based gene therapy holds great potential for treating CNS diseases. Furthermore, some rAAV capsids are able to transduce neurons, astrocytes, oligodendrocytes, and microglial cells in the brain. Transgenes packaged into rAAV vectors can be constantly expressed in post-mitotic cells without repeated injections. Taken together, rAAV-based gene therapy has emerged as a promising treatment for CNS diseases.
Therefore, for GM3 synthase deficiency, we will develop a rAAV-based gene replacement therapy strategy to express a functional ST3GAL5 gene in vivo. Successful restoration of ganglioside biosynthesis and alleviation of disease phenotypes in the GM3 synthase deficiency animal model has the potential to be translated into the clinic.
Co-Director, Li Weibo Institute for Rare Diseases Research, Director, Horae Gene Therapy Center and Viral Vector Core, Professor of microbiology and physiological systems, Penelope Booth Rockwell Professor in biomedical Research
Gao Lab
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