Ten hospitals in the Sanford Children’s Genomic Medicine Consortium are participating in genome sequencing research of patients who have primary immune deficiency diseases (PIDD) or primary immune regulatory disorders (PIRD).
Rapid whole genome sequencing will become more useful, augmented by EHR data, the use of the cloud and comparisons with large databases, says Stephen Kingsmore, MD.
Babies with Fitz’s condition, commonly known as “bubble boy disease,” rarely survive to toddlerhood. He became one of the first babies anywhere to get a specific diagnosis within days of birth and an experimental therapy several months later that appears to have worked.
Project Baby Deer is allowing Bronson Children’s Hospital to diagnose genetic disorders in as fast as 30 hours; something that used to take nearly 30 days.
© 2022 Rady Children's Institute for Genomic Medicine.
@RadyGenomics 
LinkedIn Company Page