Shriners Hospitals for Children (SHC) is an international health care system of 22 facilities dedicated to providing specialty pediatric care, regardless of ability to pay, for orthopedic conditions, burns, spinal cord injuries, cleft lip and palate, cerebral palsy and metabolic bone disease. SHC has established a Genomics Institute to foster precision medicine research by creating a biorepository. As the SHC Genomics Institute’s first project, saliva samples will be collected from SHC patients, ages 4 through 17 years, and where possible, from biologic parents for trio analysis. Our goal is to build an extensive genetic and clinical database from a large and diverse pediatric population.
According to the March of Dimes, the cause of 70 percent of birth defects remains unknown, with disorders varying from mild to life-threatening, and we hope to understand the underlying biochemical and molecular mechanisms of tissue development, homeostasis and repair as an integral part of our healthcare mission. Our study’s goals are to perform molecular analyses aiming to discern the genetic bases of conditions affecting our patients, identify and investigate clinically relevant mutations and genetic modifiers, whether inherited or somatic, and develop precision diagnoses and therapies, ultimately improving patient care.