For 150 years, Boston Children’s has embodied a culture of scientific investigation that has shaped pediatric medicine and changed children’s lives. This legacy continues today as we lead the world in pediatric research, empowering clinicians and scientists to challenge the status quo and seek better answers for our patients.
Our research enterprise is the world's largest and most highly-funded pediatric hospital. In FY2022, we received more funding from the National Institutes of Health than any other children’s hospital in the nation. We perform research in a vast range of specialties, revolutionizing treatments for children with common conditions, such as asthma, diabetes and obesity, to children with rare and complex disorders.
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Making genome sequencing a first-line test in rare disease
Exome sequencing can’t always diagnose rare diseases. This study argues for going directly to genome sequencing to get to an answer faster.