The 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