Moving beyond the diagnostic odyssey: the pathway from genomic diagnosis to patient-customised therapies for rare disease
Researchers have proposed a new clinical framework to bridge the gap between genomic diagnosis and the creation of personalized nucleic-acid therapies for rare diseases. The study aims to streamline the development of patient-specific treatments to reduce childhood mortality.
Why it matters
This framework could significantly accelerate the delivery of life-saving, customized medical interventions for patients with rare genetic conditions.
npj Genomic Medicine ( 2026 ) Cite this article
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