Genetic Sequencing Kit Catches Rare Mutation for TARP Syndrome

Researchers at NIH worked for many years on DNA material related to a rare condition called TARP syndrome, but it wasn’t until recently that they had the right tools at the right price to make an amazing discovery that TARP syndrome is caused by a mutation in a gene called RBM10.

TARP syndrome is 100 percent lethal.

This new finding could empower moms and families in the future. 

“Now that the gene has been discovered, it is possible that a genetic test could be developed to indicate whether or not they carry the mutation. Those who are carriers can then make reproductive decisions based on the information. Furthermore, the information could potentially be used for pre-implantation genetic diagnosis, or embryo screening, to select an embryo with the mutated RBM10 gene.”

For more information, see full press release here.

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I hope the researchers working on my son’s condition are as diligent as these researchers about pulling samples from the refrigerator year after year. Gosh, you just never know what discovery is right there.