Research

genomics-reserachThe Institute has a number of research studies in process that are intended to further understanding of rare genetic childhood diseases through rapid Whole Genome Sequencing (rWGS).

Under a research protocol, the Institute has sequenced the genomes of more than 100 acutely ill infants, and their family members, since July 2016. Approximately 40 percent of patients have received a genomic diagnosis with 80 percent of those benefiting from an immediate change in clinical care.

With just one test, we can screen for thousands of diseases. Our innovative data-analysis software and skilled clinical interpretation can deliver information that physicians can immediately use to provide personalized care for their patients.

Advancing Medical Breakthroughs

Through our innovative research we are:

  • Optimizing and refining rapid Whole Genome Sequencing
  • Expanding the knowledge base of rare childhood diseases
  • Mentoring physicians and the next generation genomic workforce
  • Accelerating delivery of  Rapid Precision Medicine to improve and save lives

Video: Going big for the little ones