"While we’ve made great progress in diagnosing rare genetic diseases for critically ill newborns and children, only an estimated 10% of childhood genetic diseases currently have effective treatments,"
A new research collaboration between Rady Children’s Institute for Genomic Medicine (RCIGM) and Takeda Pharmaceutical Company Limited (“Takeda”) aims to accelerate the discovery and development of
HiFi Sequencing will be used on a cohort of rare disease cases with the aim to identify numerous variants, both small and structural, that are not readily detectable by short-read sequencing Pacific Biosciences
For an infant with seizures, every passing hour risks more harm to the newborn's brain. That's why this story from Rady Children's Hospital in San Diego is so inspiring, not just for parents and their
Grace Sevilla, APR
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