Personalized medicine may offer better treatment options for highly variable diseases such as cystic fibrosis (CF), where treatments are based on individual factors right down to the molecular level. This is particularly significant for CF children, who are at a particular risk of developing complications that can affect them throughout their life.
Cystic fibrosis is an inherited, progressive disease that harms the lungs. Despite DNA screening that can diagnose CF at birth, the tests cannot predict the severity of the disease, and there are still no available markers to identify which patients will have very few symptoms and which will be at risk of persistent lung infections that might eventually lead to respiratory failure.
“Now we’re flying blind,” Hara Levy, M.D., a physician and scientist at Ann & Robert H. Lurie Children’s Hospital of Chicago, said in a press release.
Levy is currently mapping the molecular foundations of what cystic fibrosis patients experience clinically, in a study where she is turning to patients’ samples to analyze how different sets of genes are expressed throughout the years regarding disease severity, clinical progression, treatment response, as well as age, family background and particular mutations in the cystic fibrosis gene (CFTR).
“Our ultimate goal is to be able to tailor medical care to individual patients according to their molecular profile differences,” Levy said.
Levy also serves as the director of pulmonary research at Stanley Manne Children’s Research Institute within the Human Molecular Genetics Program. She is an associate professor of pediatrics at Northwestern University Feinberg School of Medicine.
She believes tailored medical care could transform the way cystic fibrosis patients receive care after diagnosis.
“We are hoping to use patient-specific molecular signatures to predict how the disease manifests and responds to treatment, which would allow us to intervene earlier and more effectively,” said Levy, who believes molecular patterns could be capable of signaling if a patient’s lung infection is viral or bacterial, if a patient is in need of antibiotics, or even if a CF child is developing diabetes prior to any symptoms.
Levy said this type of knowledge would support tailoring therapies to optimize the treatment effect, which could be life-changing to the point of extending the lives of cystic fibrosis patients.
“At this stage, our genomic studies have identified predictive biomarkers that may be targets for treatment of lung severity in cystic fibrosis,” Levy said.
The research study is funded by the National Institutes of Health (NIH) New Innovator Award, the Stanley Manne Children’s Research Institute, and the National Heart, Lung and Blood Institute (NHLBI).