Tuesday, July 9, 2019

St. Jude Children's Research Hospital Cures Babies Affected by "Bubble Boy Disease"

David Vetter in his bubble suit.

Infants born with X-linked severe combined immunodeficiency (SCID-X1) do not produce functional immune cells necessary to fight off infections. SCID is a rare genetic disorder and was made famous by David Vetter, a boy with the disorder who lived in a sterile environment and wore a bubble suit. The mutation that causes SCID is present in IL2RG which would normally produce a protein essential in immune cells.

Vetter died in 1984 at the age of 12, but new hope has emerged as gene therapy developed at St. Jude's has cured ten babies born with (SCID-X1). Specifically, the gene therapy involves collecting bone marrow from the affected babies and then the researchers insert an unmutated copy of the IL2RG gene into the babies' blood stem cells using a virus as a vector.

All patients who have received the therapy (one baby needed therapy twice) have fully recovered from infections and all develop functional immune cells. Surprisingly, the virus used as a vector was HIV, but researchers have engineered it to be simply a medium or rather a shuttle between two living tissues. Researchers also took care in preventing the gene therapy from switching on oncogenes that cause leukemia which was a side effect of earlier gene therapy methods. Personally, I am impressed by how far medicine has advanced in just the last forty years. Back in the 1970's, treatments to SCID were to just keep babies in a sterile environment and children often died at a young age. I am happy that these babies are healthy and impressed by the bravery of parents in letting their children be part of this experimental research. I hope they continue to live healthy lives and hope that gene therapy continues to save lives.


1 comment:

  1. I had never heard of this disease prior to reading this article but it is fascinating. I think gene therapy is going to cure many diseases one day and hearing that it already cured ten babies boy with SCID-X1 is amazing. The way that researchers are able to determine the mechanisms involved in creating the fatal immune cells is hard to understand, however it is crazy that they can create a shuttle between two living tissues. I could only imagine being a child in a sterile environment and then one treatment being able to change that. This treatment sounds very promising and I definitely want to look deeper into it.