👨⚕️ Researchers from @KU_Leuven studied cystic fibrosis transmembrane conductance regulator (CFTR) function in #organoids of subjects with common and rare CFTR mutations.
bit.ly/2L1AoVc
The Foundation has awarded up to $1.61 million to Eloxx Pharmaceuticals Inc. to conduct an early Phase 2 clinical trial of an investigational drug that could potentially treat people with #cysticfibrosis who have a nonsense mutation. #CFresearchon.cff.org/2l1JJ29
UAB CF center recruiting patients with CF nonsense mutations to study the beneficial effect of Symdeko "Novel Therapeutic Approaches for Treatment of CF Patients With W1282X Premature Termination Codon Mutations"
Link:clinicaltrials.gov/ct2/show/…
Vertex announced today that it will seek @US_FDA approval for its CFTR modulator VX-445 combined with tezacaftor/ivacaftor in the third quarter.
If approved, the drug could eventually benefit more than 90% of people with #cysticfibrosis. #CFresearchon.cff.org/30Wrtan
Today, Vertex released positive results from two ongoing, late-stage clinical trials for the potential VX-445 triple combination therapy. #CFresearchon.cff.org/2ECh0XB
#3. Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy #Sciencetinyurl.com/y9cxbq43 There's still concerns over off-target effects, Cas9 T-cell immunoreactivity, & the long-term effects, but the field will likely move forward in 2019.
UAB CF center recruiting patients with two copies of W1282X mutations to study the beneficial effect of Symdeko "Novel Therapeutic Approaches for Treatment of CF Patients With W1282X Premature Termination Codon Mutations"
Link: clinicaltrials.gov/ct2/resul…
Where to go for rare disease diagnoses after exome sequencing fails? Excellent review of the options by @LaureFresard and @sbmontgom: m.molecularcasestudies.cshlp…
We held our 2018 Scientific Symposium “Therapeutic Development for Nonsense Mutations: The Final Frontier of CF” on September 25 at @TheWistar in Philadelphia and we’re super excited to provide you with a recap in our latest blog! bit.ly/2zW0pfz#cureCF#beatCF#EE
Congratulations Steve and Susan for being part of this discovery.
A previously unknown airway cell type may be a key to efforts to cure cystic fibrosis
hms.harvard.edu/news/new-lun…