Inside Pediatrics Fall/Winter 2023-2024

“When you look at 3.6 million births a year, it can seem like a small number, but a few thousand babies impacted by these really quite devastating infections is a real impact. To have the opportunity to make their lives better has been very rewarding for all of us.” —David Kimberlin, M.D.

CASTING A BROAD NET HOW COLLABORATION IS MAKING A DIFFERENCE IN RARE DISEASE RESEARCH

therapeutics are, quite literally, few and far between. Fortunately, members of the Congenital and Perinatal Infections Consortium (CPIC) are working to create opportunities for research collaboration in an international effort to improve treatment options for rare infectious diseases in newborns, infants and young children. Stagno Endowed Chair in Pediatric Infectious Diseases at the University of Alabama at Birmingham (UAB), where he is vice chair for clinical and translational research. He’s also the co-director of the Division of Pediatric Infectious Diseases at Children’s of Alabama. Kimberlin is the 2022 recipient of the Walter T. Hughes Distinguished Physician Award from the Pediatric Infectious Disease Society. CPIC is based at UAB and Children’s of Alabama. It is one of 20 different consortia with a specific focus that comprise the NIH-funded Rare Diseases Clinical Research Network (RDCRN). Through the collaboration of its pediatric infectious disease partners within the RDCRN, CPIC is able to “cast a broad net” to identify and locate patients affected by specific rare infectious diseases. Those patients can then participate in research that would be difficult or impossible for any single location working independently to conduct. David Kimberlin, M.D., serves as the principal investigator of CPIC. Kimberlin holds the Sergio

S ickle cell disease, cystic fibrosis, Duchenne muscular dystrophy and hemophilia are all diseases that are familiar to most. However, they and several thousand more are considered rare diseases by the National Institutes of Health (NIH) because, individually, they affect a very small percentage of the population. Yet as unique as they are, all share a common element: limited treatment options. The rare disease classification is given to any disease that affects fewer than 200,000 people. According to the NIH, there are approximately 7,000 rare diseases affecting between 25 and 30 million Americans. This equates to 1 in 10 Americans. Because of the low incidence of a rare disease, those patients are geographically scattered, and the possibilities of conducting the research needed to develop effective

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