Guests:

• David Williams, MD, Chief of the Division of Hematology/Oncology and Director of Translational Research at Boston Children’s Hospital, Associate Chairman of Pediatric Oncology at Dana-Farber Cancer Institute, and Leland Fikes Professor of Pediatrics at Harvard Medical School

If you're familiar with the term "Bubble Boy Syndrome," it might be from a source like this:

But while Bubble Boy Syndrome has been prominently featured in pop culture (for another example, see Paul Simon's song, "Boy in the Bubble") little was known about this mysterious illness, or how to treat it. Bubble Boy Syndrome is a rare, immune deficiency disease that makes baby boys vulnerable to simple afflictions like the common cold. (As a sex-linked disease, it affects only boys.) Historically, boys with Bubble Boy Syndrome were only expected to live to one year of age, but all of that may change because of a groundbreaking new treatment pioneered by Dr. David Williams of the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center and an international team of researchers.

Dr. Williams' method of gene therapy takes blood stem cells, inserts a functioning gene into them, and then re-infuses blood into the children so their bodies can essentially "re-grow" their immune systems. To insert this DNA into the chromosome, Williams uses a virus (which, when manipulated, is called a vector) as the means of delivery, but this method has its drawbacks. In the very first trial of this disease, several children developed leukemia because the vector had "turned on" a cancer-causing gene.

Williams notes that they are currently two years into the new trial, and everything is going well - though he admits that it is too early to announce definitive results. "The natural history of the disease is almost every child with this disease dies by one year of life, without treatment." But now? "The two longest children in the child are now three years old, and happy toddlers," he says.

Bubble Boy Syndrome is very rare, but Williams notes this novel method of treating it may have far-reaching consequences. To hear more about how gene therapy may have the potential to combat more common diseases like cancer or sickle-cell anemia, tune in to our exclusive web extra above.

Still curious?

• "Study Shows Hope for Gene Therapy" via the Wall Street Journal.
• "Gene Therapy: Two Years and Holding," via Vector Blog.