As our understanding of genetic diseases grows, and the pace of therapeutic innovation accelerates, newborn screening by rapid Whole Genome Sequencing may provide a more dynamic way of expanding the number of conditions.
Infant mortality is a key indicator of a nation’s health. We seek to better understand which infant deaths are linked to genetic disease. Initial study results show that the connection between genetic disease and infant mortality is higher than previously thought.
For rare genetic conditions for which no treatment exists, our work is important as the first step in guiding research directed at targeted therapies.
— Joseph Gleeson, MD
With a better understanding of how genes work in rare disease, we can help clinicians more effectively treat patients and potentially improve outcomes.
— Matthew Bainbridge, PhD
We engage in collaborative research aimed at building the global genomics knowledge base and advancing the implementation of Rapid Precision Medicine to improve delivery of personalized pediatric healthcare.
Our portfolio includes investigations involving cardiomyopathy, familial glioma, autism, childhood digestive diseases, liver disease, neural tube defects, pediatric brain tumors, neurological movement disorders as well as development of therapies targeted for rare disease.
Together with our research partners, we are building the evidence base to demonstrate the clinical and economic value of genomic medicine for the management of rare genetic diseases in pediatric patients. Our leading collaborative efforts include:
VON Rady Children’s Biorepository research protocol allows eligible Level III and Level IV NICUs to access free rWGS as first-line diagnostic testing for critically-ill infants hospitalized with diseases of unknown etiology.
The physicians and scientists of the Precision Medicine Clinic at Rady Children’s Hospital-San Diego help patient families navigate the diagnostic and therapeutic odysseys for children with rare genetic disorders by using deep phenotyping and cutting-edge diagnostics, including whole genome sequencing.