Severe combined immunodeficiency (SCID), also known as "Boy in the bubble syndrome," is a genetic disorder where patients lack essential immune cells. About a decade ago, gene therapy was used to treat infants with SCID-X1, caused by mutations in the IL2RG gene. While the therapy showed dramatic success, some patients developed leukemia years later.
Four out of nine infants treated in Paris developed leukemia, and now researchers in London have reported one similar case. Both studies revealed that leukemia occurred when the therapeutic gene, delivered by a vector, integrated into certain harmful parts of the genome, such as regions containing the LMO2 or CCND2 genes, activating them. Additional genetic mutations (e.g., NOTCH1 activation, CDKN2A deletion, and SIL-TAL1 rearrangements) also contributed to leukemia development.
These findings aim to guide safer future gene therapy protocols by preserving efficacy while minimizing risks.
MY OPINION
When reading this article, I found that I was not too shocked by the findings. This is because, although I understand that gene therapy serves to help individuals, it can do the opposite as well. We see this every day with flu shots or even taking preventative drugs in some cases. So, I feel this was a given. I understand the severity of it, as it does involve infants, though I do believe it should not hinder researchers too much.
When I read through your post I was completely shocked by this discovery, but your opinion discussion at the end does make sense. The fact that this gene therapy was done with good intentions but led to such a terrible diagnosis is horrible. Before vaccines and medications are released to the public they are often tested out in vigorous trials and studies, and I wonder if that was done with this treatment. For example, if this was tested on a laboratory organism with a shorter lifespan, the occurrence of leukemia may have been seen before giving it to patients. After looking into modern SCID treatment, it seems that doctors are now treating with stem cells transplant, so I am glad they have found methods that help heal those affected!
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