A newly discovered disease may lead to better treatment of cystic fibrosis.

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Cystic fibrosis is the most frequent severe inherited disorder worldwide. Every year, hundreds of families are confronted with this diagnosis – and to date, there is no cure for this disease that mainly affects the respiratory system. Besides supportive treatments, a lung transplant is often the only option to save a patient’s live. Researchers of the Universities of Münster and Regensburg have now discovered a novel disease that might lead to a better understanding of cystic fibrosis and new treatment options in the future. The results have been published in the scientific journal “Journal of Medical Genetics”.

uni-muenster.de/news/view.p...

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Interesting. I really need to properly dig into this further, but my initial thoughts were: if the deficiency is potentially fatal in its own right (as per the original journal article title) then inhibiting the same gene in the hopes of decreasing the impact of a lack of cftr function in cf patients would be a concerning proposal from my perspective. Particularly in our case where she has a number of additional conditions that we know are genetic, but science has yet to identify which specific genes are involved. I can’t help but think that, if the trials actually get beyond phase one, this is one of those things that just because we can do it, doesn’t necessarily mean we should. Not when you consider that our understanding of genetics and the genome is in its infancy at best: the genetics in cf are actually poorly understood when you consider the difference in presentation between some identical twins raised in the same household, with the same care. We know the primary, causative genes, but have zero knowledge of the relevant modifier genes that medics acknowledge dictate internal course and severity. Partly why I’m not a massive fan of how science is ploughing ahead with CRISPR applications. We just don’t understand enough to be sure of what we’re actually doing...