I've previously posted on the potential of universal newborn genomic screening programs that are being piloted in several countries (including here in Australia) to significantly boost the diagnosis rate for Rett and, more broadly, other neurodevelopmental disorders.
The US-based pilot project GUARDIANS recently published interim findings here:
Rett syndrome is a genetic condition that predominantly affects girls. Similar to spinal muscular atrophy, patients start out with no visible symptoms, but their motor and language abilities later degenerate and cannot be regained. The critical window for intervention is very early. There is currently a clinical trial for genetic therapy, and an FDA-approved medication. Chung says, “Sequencing has the potential to catch this devastating disease before the girls even show symptoms, and someday I hope they will not have to go through the phase of decline.”
Surprisingly, the researchers found Rett syndrome to be five times more prevalent than predicted. “That means there are kids we’re leaving behind who are probably never getting diagnosed,” Chung says.
For those interested and of relevance to 2591 market potential, Chung has also published a paper on the implications of newborn genomic screening for diagnosis of neurodevelopmental disorders more broadly.
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