Relentless Search for Breakthroughs

Children’s Hospital of Philadelphia’s dedication to research has grown from a single room set aside for research in 1922 to the nearly 800,000 square feet now dedicated to the CHOP Research Institute and our commitment to improving child health through basic, translational and clinical research.

Last year saw numerous advances and innovations at the Research Institute. We highlight some here. Read more in the Research Institute Annual Report.


Two new Research Affinity Groups (RAGs) launched by the Research Institute this year — the Global Health RAG and the mHealth RAG — assemble investigators from varied disciplines with common research interests to form strong ties and intertwine novel ideas and approaches that are the fabric of pediatric research.

Investigators who join the Global Health RAG can learn from their own backyard about the challenges unique to international pediatric research. Projects are underway in at least 14 countries, many of them in low-income communities with huge populations of children who are suffering from treatable, preventable illnesses.

Members of the mHealth, or mobile health, RAG are exploring how an array of technologies — from basic text messages, apps and social media, to more complex wearable devices that link to electronic health records — can be applied to advancing pediatric health and behavior.


When CHOP established the Center for Applied Genomics (CAG) in 2006 with a $40 million commitment, it was one of the largest single investments in a research program in the Hospital’s history. Spearheaded by the efforts of CAG’s founder and director, Hakon Hakonarson, MD, PhD, and supported by hundreds of other investigators and research staff, CAG has established the world’s largest pediatric genomics biobank and used its vast quantity of genetic data to discover the causes of disease and disability hidden within a population’s genes.

A decade later, CAG’s considerable influence is poised to grow as more of the center’s genomic discoveries lead to improved therapies and possibly cures for some of the most complex and devastating conditions affecting children. The CHOP biobank includes samples from more than 400,000 people, including about 100,000 CHOP patients and their family members, giving CHOP investigators great statistical power to detect genetic variations of underlying diseases.

They have made numerous landmark discoveries in a wide range of conditions, including asthma, cancers and type 1 diabetes; their breakthroughs have been published in more than 500 papers in scientific journals. CAG investigators and their collaborators also have helped hundreds of families resolve the underlying genetic causes of their extremely rare diseases. More recently, they have begun to translate genomic discoveries into novel therapies.


Making sense of the glut of data created while trying to solve challenging pediatric health problems may be one of the most dominant challenges in the 21st century. Newer genetic sequencing tools result in huge amounts of data, and understanding it requires vast computational power. Millions of patient histories are captured in electronic health records. At the same time, rules govern how clinical and research data can be shared and used while still preserving patient privacy. Fortunately, innovators at CHOP are deftly navigating these emerging roadblocks.

For example, a novel, award-winning population health project spearheaded by two CHOP clinical informatics fellows helps information flow between clinicians and public health agencies via electronic health records. Such a flow could be especially useful in the event of evolving public health situations, such as the outbreak of the Zika virus.

Another recent CHOP-led effort aims to strengthen and speed discovery of new biomedical approaches to pediatric disease. The Center for Data-Driven Discovery in Biomedicine (D3b) was established in December 2015 as a way to break down silos that keep data separate. With the launch of D3b’s open-access pediatric genomic data cloud, Cavatica, clinicians and scientists can access big data about pediatric diseases that is empowered for secure, collaborative analysis.

CHOP is a nonprofit charity, and depends on donors like you to make life-changing breakthroughs for the children and families we serve.

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