Cystic fibrosis (CF) is a genetic disorder that is still unfamiliar to many, says Dartmouth Health Julie L. Sanville, DO, FAAP, a pediatric gastroenterologist at Dartmouth Health Children’s.
That’s one of the reasons why Sanville, who is also Assistant Professor of Pediatrics at Geisel School of Medicina and Associate Pediatric Program Director for the New Hampshire Cystic Fibrosis Center, believes that it is so important to continue to support learning and awareness within and outside the CF community.
“Because it is a rare disease, people may not be familiar with CF. But this disease has a profound impact on the lives of those affected by it, as well as those who love and care for them. Sharing and raising awareness is how we continue to help encourage others to support this special community,” she says.
Below, she answers common questions about the disease.
What is CF?
“Cystic fibrosis or CF is a rare, chronic disease that affects an estimated 105,000 people across 94 countries.“
How is CF related to gastroenterology?
“CF is caused by a genetic mutation that affects many of the body's systems. It causes thick mucus in the pancreas as well as the GI tract and liver, which causes difficulty with absorption of dietary nutrients, alterations to the body's microbiome (the collective community of microorganisms in the body) as well as a variety of gastrointestinal symptoms like diarrhea, abdominal pain and constipation.”
Are there currently effective treatments for CF?
“Absolutely.”
“Modulator therapy has revolutionized treatment for people with CF. Modulators are medications that work to improve the function of the protein affected by the genetic mutation (CFTR) that causes CF. This has meant significant improvement in the respiratory function for people with CF, making their lungs much healthier.”
“Unfortunately, it has not had the same effect for the gastrointestinal disease and symptoms that patients with CF continue to experience.”
You're described as a clinician investigator. What is that and how can your role benefit patients?
“A clinician investigator is a healthcare provider who is also a researcher. This allows me to work in both the clinical world to take care of patients but also in the research world where I can explore the science of the disease. In doing so, I am able to enroll the patients I care for into research studies, which allows them to be part of the scientific process as well.”
What differentiates CF care at Dartmouth Health Children’s?
“CF care is a team support. As a multidimensional and very complicated chronic disease, it takes a specialized team to care for patients with CF. Here at Dartmouth, we are called the New Hampshire Cystic Fibrosis Center and are experienced in the special needs of this community. Our team is dedicated to doing the best we can every day to improve the lives of our patients and families.”
Talk about your collaborative studies that were recently published in peer-reviewed journals and how those findings might help patients.
“My research focus is looking at how the early life microbiome in children with CF differs from children without CF and how those differences impact clinical outcomes like growth, gastrointestinal symptoms, recurrent illnesses as well as gastrointestinal tract inflammation and absorption. Through collaboration with colleagues at DartCF (Dartmouth Cystic Fibrosis Research Center), we are able to analyze samples provided from our patients to understand what changes are occurring within the microbiome as children with CF age and how that relates to their health outcomes.”
“Through this and other research into new drug development, new ways to treat infections, and even the potential for gene therapy, we hope in the future to develop treatment tailored to our patients’ needs.”
How are CF patients and their loved ones helping each other
“The whole community is so engaged and invested in making things better for all those who live with CF. They want to participate in research. They want to fundraise and contribute to the cause in any way possible. They are so excited for what science has in store for the next generation of CF care. For me, it is rewarding to have a small part in this process.”
A modified version of this story first appeared in the May, 2025 issue of Connections, Dartmouth Health’s employee magazine.