genomics-reserachThe Institute is working side by side with Rady Children’s clinicians to translate leading-edge research into timely diagnoses and more effective treatments for pediatric patients and then using those lessons to set new standards of care. This model, and the other great assets we have assembled, is attracting world-class researchers and healthcare providers to join us in our quest to unlock the secrets of genetic diseases.

Under research protocols, the Institute has begun diagnostic genome sequencing on critically ill infants with unknown conditions (and their families) in Rady Children’s neonatal intensive care unit (NICU) and pediatric intensive care unit (PICU). With just one test, we can screen for thousands of diseases, and our innovative data-analysis software and skilled clinical interpretation can deliver information that physicians can immediately use to care for their patients’ unique needs. We are also currently preparing to launch a clinical trial early next year that will compare the merits of clinical exome and genome sequencing in the neonatal and pediatric intensive care units.

Programs are underway in autism and neuro-oncology as well. In the area of autism and intellectual disability, the Institute plans to enroll patients who will receive genome sequencing as part of their initial workup in order to look for structural variations as well as nucleotide variants that may help to explain their condition. In neuro-oncology, patients will receive matched tumor/normal genome and transcriptome sequencing.  The genome sequencing in both areas will be conducted under research protocols.