Our lab is dedicated to advancing precision medicine for cystic fibrosis (CF) by investigating CFTR function and dysfunction. We develop and utilize cutting-edge model systems to investigate the disease liability of CFTR variants, aiming to deepen our understanding of how these genetic changes impact health. Our team is focused on testing CFTR modulators to enhance CFTR function, seeking effective treatment options tailored to individual disease-causing variants.
Secondly, we work to expand modulator therapies for individuals with CFTR-related disorders, including those with borderline sweat test results who may have one or no CFTR variant identified. For individuals presenting with lower CFTR function, we conduct detailed RNA analysis and full CFTR gene sequencing to characterize their condition more precisely. We aim to develop a risk score to better predict and understand the phenotype associated with borderline sweat chloride levels and reduced lung function, identifying those who may benefit from CFTR modulator therapies.
Thirdly, our research investigates CFTR splicing and nonsense-mediated mRNA decay, with a focus on therapeutic discoveries for the correction of splicing by antisense oligos, enhancing mRNA stability by inhibiting nonsense-mediated mRNA decay for effective readthrough and CFTR modulator efficacy.
Lastly, for CFTR variants that are not amenable to small molecule or antisense oligonucleotide approaches, we are exploring base editing and prime editing as alternative therapeutic strategies. Through these efforts, we aim to drive the development of personalized therapeutic strategies that address the diverse needs of those affected by CFTR dysfunction.
