Defining actionability in the era of prenatal and newborn genomic screening. bit.ly/4q1Jcs8 #GenomeSequencing #NewbornScreen

#Metachromatic #leukodystrophy (#MLD) is rare—1 in 100,000 births—but devastating if missed. A new two-tier #newbornscreen can catch it early, enabling #genetherapy that improves #survival & motor #outcomes. #pediatric #genomics #rarediseases

@hadleyssmith.bsky.social

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#thyroid #india #newbornscreen #newborn #thyroidtesting