Celebrating a Decade of Genomics Discoveries

Now approaching its 10th anniversary, the Center for Applied Genomics (CAG) at The Children’s Hospital of Philadelphia has had a profound impact on the research landscape. Its director and founder, Hakon Hakonarson, MD, PhD, was recently named as one of the most “highly cited” scientists by Thomson Reuters. But, more importantly, the center’s research is poised to impact growing numbers of patients’ lives, as its genomics discoveries translate into clinical therapies.

Ten years ago, a $40 million commitment to establish the CAG was one of the largest research program investments in CHOP’s history. Success was by no means assured. But today, CAG has established the world’s largest pediatric biobank. This enormous collection now totaling DNA samples from more than 400,000 people, including about 100,000 CHOP patients and their family members, is housed at CHOP and used for a vast range of research discoveries

With such a large number of samples, CHOP investigators have great statistical power to detect genetic variations underlying diseases in the population. In addition, CAG investigators and their collaborators have helped hundreds of families to resolve the underlying genetic causes of their extremely rare diseases and helped to unravel common complex conditions. They have made landmark discoveries in the gene variations and genetic pathways involved in a wide range of conditions, including asthma, autism spectrum disorder, cancers, schizophrenia, and Type 1 diabetes.

“That has led to huge visibility to CHOP as a mecca of pediatric genomics today,” Dr. Hakonarson said. “These efforts have really transformed genomics research at CHOP.”

Dr. Hakonarson was recently recognized by Thomson Reuters as one of the most highly cited researchers across all disciplines. The “highly cited” status can be seen as an independent verification of his program’s research impact; not only is the CAG team publishing papers in well-regarded journals, but other researchers build on that work often enough that they cite those papers with exceptionally high frequency. 

See the full version of this article in the March 2016 issue of Bench to Bedside.

Links of Interest

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