David Kimberlin, MD, is vice chair for Clinical and Translational Research and co-director of the Division of Pediatric Infectious Diseases at the University of Alabama at Birmingham. He is also principal investigator of the Congenital and Perinatal Infections Consortium (CPIC). His research focuses on pediatric infectious diseases, including neonatal herpes simplex virus (HSV) infection, congenital cytomegalovirus (CMV) disease, congenital Zika syndrome, neonatal and infantile influenza infection, and neonatal viral sepsis caused by enteroviruses (EVs). Here, he shares his start in rare disease research, exciting discoveries, and future goals.
What inspired you to become a physician and a researcher in the rare disease space?
I joined the Collaborative Antiviral Study Group (CASG) in 1994 as a fellow in Pediatric Infectious Diseases. Without a doubt, my inspiration to work in this space was (and is) Dr. Richard Whitley. His passion, energy, and brilliance are simply unparalleled. Dr. Whitley and his mentor, Dr. Charles Alford, started the CASG in the 1970s, and they already had made significant advancements by the 1990s.
Building upon the solid foundation that they developed, the CASG and now the CPIC is continuing to advance the field by answering new questions for this new era—but staying grounded in the concept of having a large collection of academic sites working seamlessly together to study rare diseases that no single center would be able to accomplish on its own.
What has been your biggest “aha” moment as a scientist?
There have been two, and both relate to the moment when, working with the study’s biostatistician following literally years of study development and implementation, the first analyses showing therapeutic benefit came across our computer screens. For neonatal HSV, this was in the evaluation of oral acyclovir suppressive therapy. And for congenital CMV, it was in the investigation of longer-term (six month) treatment with valganciclovir.
Can you tell us about your discoveries and what they mean for patients and physicians?
Neonatal HSV, congenital CMV, and neonatal enteroviral sepsis are all rare diseases. If the CPIC—and before that, the CASG—were not conducting these studies, then they would not be done. Our defining the standard of care for these diseases has changed the practice of medicine, as well as the outcomes of children and their families, for neonatal herpes, congenital CMV, and infantile influenza.
Can you tell us about the CPIC and the role it has played in your work?
CPIC and the CASG have been absolutely central to my academic career. By working together across dozens of academic medical centers, colleagues and friends in the field of pediatric infectious diseases have collaboratively developed research studies that answer key questions. Together, we have been able to make a difference in thousands of lives across decades of work.
What do you see ahead for the CPIC and your rare disease research?
I think that this terrible COVID-19 pandemic has focused all our attention on the need for viral diagnostics and therapeutics. This will create opportunities for the CPIC to take these new tools and apply them to rare disease populations. In many ways, a golden era in virology quite likely is in front of us, and the CPIC will be there to help translate that into advancements for the lives of our patients who suffer from rare congenital and perinatal infections.
The Congenital and Perinatal Infections Consortium (CPIC) is part of the Rare Diseases Clinical Research Network (RDCRN), which is funded by the National Institutes of Health (NIH) and led by the National Center for Advancing Translational Sciences (NCATS) through its Division of Rare Diseases Research Innovation (DRDRI). CPIC is funded under grant number U54AI150225 as a collaboration between NCATS and the National Institute of Allergy and Infectious Diseases (NIAID).