In the era of precision medicine, digital technologies and artificial intelligence, drug
discovery and development face unprecedented opportunities for product and business …

Over the past two decades there has been considerable progress with the evaluation and
management of infants with an inconclusive diagnosis following Newborn Screening (NBS) …

Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause
cystic fibrosis (CF), a multiorgan disease that is characterized by diverse metabolic defects …

Cystic fibrosis (CF) is a life-limiting autosomal recessive multisystem disease. While its
burden of morbidity and mortality is classically associated with pulmonary disease, CF also …

TRIKAFTA is the third drug approved by the FDA that rescues defects caused by the major
mutation F508del. It is superior to its predecessors that were approved for patients who are …

Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the CF
transmembrane conductance regulator (CFTR) gene [1]. The CFTR protein is an ion channel …

Although the impact of genome variation on the thermodynamic properties of function on the
protein fold has been studied in vitro, it remains a challenge to assign these relationships …

Elexacaftor/tezacaftor/ivacaftor (ETI) has made a substantial positive impact for people living
with CF (pwCF). However, there can be substantial variability in efficacy, and we lack …

Small molecule drugs known as modulators can treat~ 90% of people with cystic fibrosis
(CF), but do not work for premature termination codon variants such as W1282X (c. 3846G> …

The dosing interval for effective recombinant adeno-associated virus (rAAV)-mediated gene
therapy of cystic fibrosis lung disease remains unknown. Here, we assessed the durability of …