News

It’s been nearly a year since the EveryLife Foundation for Rare Diseases released its expansive report finding the total economic burden of rare disorders in the U.S. to be nearly $1 trillion.

Adults and children with cystic fibrosis (CF) experienced a marked increase in food insecurity — meaning a limited or uncertain availability of foods that are nutritionally adequate and safe  — during the COVID-19 pandemic, a U.S. study found. Patients with food insecurity also reported poorer mental health and self-care…

Clustering of the CFTR protein in lipid (fat)-rich platforms on the cell membrane, which can occur when the cell is under stress and increases the number of working CFTR proteins, is disrupted by cystic fibrosis (CF)-causing mutations, a recent study shows. CFTR modulators that are part of Trikafta were…

An international team led by scientists at the University of Toronto identified hundreds of proteins, from among nearly 10,000 screened, that interact with the CFTR protein in mammalian cells. These interacting proteins may be useful therapeutic targets for cystic fibrosis (CF), which is caused by mutations…

The introduction of CFTR modulators — a type of disease-modifying treatment for cystic fibrosis (CF) caused by specific mutations — has brought a general sense of hope to the lives of young adults with the disease, according to a small single-center U.S. study. Notably, patients reported greater physical…

Two types of bacteria — Porphyromonas pasteri and Prevotella nanceiensis — were found to be highly prevalent in the mucus of adults with cystic fibrosis (CF) and associated with a progressive decline in lung health, a study reported. These two bacteria differ from previously identified, disease-exacerbating bacteria in being…

Exon skipping may be a promising approach for cystic fibrosis (CF) patients carrying nonsense mutations in the CFTR gene, which render current CF therapies less effective, a study reported. Researchers were able to raise CFTR protein function and protein response to approved CF therapies in cells isolated from a patient…

In contrast to vitamins A and E, the early and sustained use of supplements of vitamin D in young children with cystic fibrosis (CF) led to later and variable responses, a study found. Nearly one-fifth (17%) of these children continued to have low vitamin D levels at age…

Since 2008, Rare Disease Day — the last day of February — has brought together patients, caregivers, family members, friends, and advocates from around the world to raise awareness and improve equity for the more than 7,000 known rare diseases that affect more than 300 million people. In 2022, the…

More than half of children and teens with cystic fibrosis (CF) who do not show breathing difficulties during physical exercise were found to have reduced cardiorespiratory fitness (CRF), a measure of oxygen supply to the muscles, according to a single-center study in the Netherlands. Notably, glucose intolerance and…