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I spent at least half an hour trying to figure out which gene it is. I have a sneaky feeling I have read this story before, and managed to track the gene down t
by hirenj 9y ago
I spent at least half an hour trying to figure out which gene it is. I have a sneaky feeling I have read this story before, and managed to track the gene down there, but not this time.
You'd think that if they were serious about tackling this, they would add a footnote with the name of the gene.
- DoreenMichele 9y agoI wonder if the J97 after the author's name in the footer refers to the gene. But googling gene J97 gets me nothing that immediately and obviously says "yea, verily." Odds are poor that merely naming the gene would clarify for me what the actual mechanism is. My mental model for CF is not in line with official dogma and most literature on it doesn't really talk in a detailed way about the malfunctioning CFTR channel, much less exactly how this malfunction leads to specific symptoms. So, I am not really surprised the article doesn't make those connections for a newly identified disorder with a very small number of people who have it. They know some of the general symptoms and pathology. They know it is genetic. They have identified the gene. There is quite a lot of work still to do to connect the gene to the pathology. Given that they plan to make sure the gene is not passed on, this step may never happen. There are at least tens of thousands of people with CF and it has been around a long time, yet they have done a poor job so far on connecting what the CFTR does at the cellular level to the broader pathology of CF at the system level in a logical and useful manner.
- berberous 9y agoJ97 is probably Jumbo '97. Jumbo is Tufts' mascot and a nickname for Tufts graduates. '97 is the year she graduated.
- DoreenMichele 9y agoThank you.