The projects supported by the center reflect the wide range of ways genomics will influence the future of pediatric medicine. Some projects seek cures for rare, almost untreatable conditions. Others search for solutions to stubborn complications that occur in cancer treatment and organ transplantation. Some seek to scale up the entire field to take on common but far more genetically complex conditions such as epilepsy, diabetes and asthma.
Still other projects explore more foundational questions, such as studying the formation of chromatin loops and the role they play in regulating gene expression, or searching for better methods to distinguish a risk-causing gene mutation from a “variant of unknown significance.”
Harley says no one can predict where the work may lead.
“If you could stretch out a full strand of DNA, it would be about three meters long. But the strands of the DNA in our chromosomes are actually boxed up into a ball so tiny that we cannot see it. Indeed, there are about 10 trillion of these in the adult human body,” Harley says. “We used to think there was no particular significance to the way that folding occurs, but now we know that it matters very much. That’s just one aspect of genomics that remains minimally understood. It may take the rest of the century to figure out what exactly causes the many differences in our genome, and why.”
NEW KINDS OF CARE TEAMS
Some of the center’s work explores how all this new science will play out as more clinicians become involved in using and communicating genomic information and more families face decisions based on that information.
The emergence of genomics and the promise of personalized, precision medicine is driving new relationships between clinicians and research scientists. In addition to working directly with patients, this may mean that physicians must also interact effectively with a behind-the-scenes army of experts, including computational biologists, cytogeneticists, biostatisticians, programmers, advanced laboratory technicians, bioethicists and others.
Working out the best ways to work together will be a massive undertaking, which is why the center expects to play a major role in training and raising awareness in the clinical world about resources available on the research side.
FORGING MASSIVE NETWORKS
Harley and White emphasize that translating the potential of genomic innovation into improved medical practice will depend heavily on research centers working together at institutional levels. Cincinnati Children’s already leads several big research collaborations and participates in many others.
An important role for the center will be to support even more multi-center projects.
“Our challenge is that the complexity of genomics precludes the old models for conducting research and providing care,” White says. “Very few, if any, advances in this field will come from researchers in isolated labs, or even from single institutions. This truly is the era of team science.”
The Center for Pediatric Genomics (CpG) at Cincinnati Children’s fosters and incubates outstanding and innovative scientific and translational genomics projects. These projects have received funding for pilot studies: