The Rare Disease Report Podcast: Cystic Fibrosis

Jonathan Alicea

Jordana Hoppe, MD, discusses the burden of cystic fibrosis on infants and children.

The US Centers for Disease Control and Prevention (CDC) places the US prevalence of cystic fibrosis, or CF, at roughly 35,000.

Cystic fibrosis is a genetic disorder caused by a mutation of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene. Patients with CF typically experience a build-up of mucus, which can to blocking of the airwards as well as increased likelihood for infection. They also may have difficulty with proper digestion and absorption of nutrients.

As such, malnutrition, growth deficiency, and lung damage (among other adverse outcomes) are marked characteristics of the disease.

In honor of Cystic Fibrosis Awareness Month, Jordana Hoppe, MD, a pediatric pulmonologist based at Children’s Hospital Colorado, joined The Rare Disease Report to discuss the disease, its history, pathophysiology, related challenges, prevalence, and therapeutic options.

She talked about diagnostic practices, including the impact of universal newborn screening, as well as the state of research for CF. She also discussed her own recent work with CFTR modulators in pediatric populations.

Hoppe has been involved in numerous publications regarding both CF and pulmonary populations. Currently, she teaches pediatric pulmonology at the University of Colorado School of Medicine and Children’s Hospital Colorado and is a member of the American Academy of Pediatrics and American Thoracic Society.