Mark S. Sands, associate professor of internal medicine and of genetics, studies lysosomal storage disorders — inherited metabolic diseases that can affect most organs in the body, including the central nervous system.

Mark S. Sands, associate professor of internal medicine and of genetics, studies lysosomal storage disorders such as Batten disease and the mucopolysaccharidoses. In lysosomal storage disorders, which are inherited metabolic diseases, cellular material builds up in the cells due to a lack of enzymes that normally degrade these molecules. There are almost 50 of these disorders, and they affect most organs in the body, including the central nervous system.

In the past, gene therapy strategies for these diseases had limited success because the vectors, viruses that transfer a functional copy of the gene into the affected cell, weren’t very efficient. Recently, Sands and his laboratory have used a number of new vectors that work much better.

“The adeno-associated virus shows considerable promise because it has the potential to provide a permanent source of deficient enzyme,” Sands says. “We’re also excited about the HIV-based vectors. These vectors have virtually all of the HIV genes deleted and are incapable of replicating once they infect a diseased cell.

Both pre-clinical animal studies and clinical trials using these vectors are in development. Sands, who’s assisting in the development of a gene therapy core for the Hope Center along with B. Joy Snider, assistant professor of neurology, believes these techniques and delivery methods can one day be used for a large number of neurodegenerative diseases, including Parkinson’s and ALS.

“I think the future of gene therapy looks very bright,” Sands says.

<< Prev - Next >>