Gene Replacement Therapy

The National Institutes of Health (NIH) recently awarded the Tay-Sachs Gene Therapy Consortium (Consortium) a four-year, $3.5 million grant to continue its cutting-edge research to cure this fatal disease. The Consortium, formed in March 2007, is an international collaborative group of scientists from four institutions: Auburn University, Boston College, Cambridge University (U.K), and the Massachusetts General Hospital/Harvard University.

Children born with Tay-Sachs disease lack a vital enzyme, this substance accumulates abnormally and causes progressive damage until the nervous system can no longer sustain life. Researchers in the Consortium have refined a viral vector carrying two human genes- Hex-A, which is deficient in Tay-Sachs disease, and Hex-B, which is deficient in Sandhoff disease. They have successfully injected these genes into the brains of laboratory mice, prompting production of the missing enzyme at levels sufficient to correct the deficiency. However, curing affected mice is just one very promising step in their research.

The next task for the Consortium is to translate the results into advances in a large animal model of the disease, specifically cats. A cat’s brain is seen as an intermediary between mouse and human in terms of size and complexity. Al of this will hopefully translate into the ultimate goal of the Consortium- to develop a clinical trial of the gene therapy safe enough for humans within the next four years. If successful, it could potentially stop the progression of Tay-Sachs disease, although it would not be able to undo damage already done to the affected individuals.

For more information about this research, please visit the Tay-Sachs Gene Therapy Consortium’s website at

Cord Blood Transplants

Cord blood transplants to treat genetic metabolic disorders in babies while they are still in the womb is a method which uses a small select number of therapeutic stem cells injected directly into the fetus’s abdomen at 12-14 weeks pregnancy. The idea is to give the baby cord blood stem cells from a healthy donor with the potential to provide healthy genes that will hopefully replace the genes that aren’t working in the baby’s cells.

There is a pilot trial currently open to pregnant women at risk for having children with fatal metabolic disorders including Tay-Sachs and Sandhoff diseases. The trial is being conducted out of Duke University Medical Center in Durham, N.C.

For a more complete listing of current research projects, please visit or