New genetic disorder in infants treated with GM drug

My heart breaks when I see photos of children suffering from genetic disorders, such as the nine babies from this story. But this story also lauds to the use of genetically modified organisms for producing drugs for treatment.

Recently, scientists discovered a new genetic disorder in nine newborn to 2-week old babies. The infants had swollen bone tissues, bone pain and deformity, and rashes that can range in size from small fluid-filled blisters or pustules to blisters that covered the whole body.

The researchers immediately realized they were looking at an unrecognized auto-inflammatory syndrome, where recurring episodes of inflammation occur without any pathogens or immune cells triggering the reaction. All nine babies had mutations of IL1RN, a gene involved in the immune response which encodes the interleukin-1–receptor antagonist. Deficiency in the antagonist protein results in a rare disease called DIRA (deficiency of the interleukin-1 receptor antagonist). The disease presents itself at birth up to two-weeks old  so you can imagine the agony these babies go through.

The children came from six families from Newfoundland, the Netherlands, Lebanon, and Puerto Rico. Their parents were heterozygous carriers and the children were homozygous for the mutations affecting IL1RN. The good news about DIRA is that it is treatable using the rheumatoid arthritis drug anakinra (Kineret). Anakinra is a synthetic or recombinant interleukin-1 (IL-1) receptor antagonist prepared from genetically modified E. coli using recombinant DNA technology.

Six children responded rapidly to the treatment but they had to be on the drug all the time to prevent relapse. One patient – the child from Puerto Rico – had mutations in other genes so his treatment was complicated, and two others had died prior to the study.

The study appears in the June 4 issue of the New England Journal of Medicine.