#cftr

Life-changing cystic fibrosis treatment wins US$3-million Breakthrough Prize
https://www.nature.com/articles/d41586-023-02890-1
Discussion: https://news.ycombinator.com/item?id=37535537

* triple-drug combination Trikafta helps 90% of people w. cystic fibrosis
* inherited disorder affecting lungs, other organs
* mutations in gene that makes the cystic fibrosis transmembrane conductance regulator protein (CFTR)
* involved in production of mucus, sweat, other fluids

#CysticFibrosis #Trikafta #disease #medicine #BreakthroughPrize #CFTR

This is the perfect day: we still need CHF 530 to reach our goal! #ScienceInAfrica #CF #CFTR
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RT @pateixidor
In our @wemakeit crowdfunding campaign we are trying to raise enough money to buy a Nanoduct® device that will improve the diagnosis of #cysticfibrosis in Africa. @AxonlabAG would you contribute in this #RareDiseaseDay2023? @SwissIonChannel @UDNIss https://wemakeit.com/projects/cystic-fibrosis-in-africa
https://twitter.com/pateixidor/status/1630494060682047488

First year PhD student Nada Elmakhzen presented in Rabat her data on sequencing the complete #CFTR gene using #Nanopore technologies. Many geneticists were impressed! #AfSHG2022 #GenomicsInAfrica #ScienceInAfrica #RareDiseases.

As additional Appendix to my #introduction, I would like to #boost our recent #DrugDiscovery efforts in the field of #CysticFibrosis: we have developed #MultiTarget compounds acting at the same time as #CFTR #Correctors and #Antibacterials or #Antivirals depending on the specific functionalization of the same chemotype.

https://chemistry-europe.onlinelibrary.wiley.com/doi/10.1002/cmdc.202200277
https://pubs.acs.org/doi/10.1021/acs.jmedchem.9b01416