Hacker News Reader

I also have PSC. Pretty scary how little is known about how to treat it. The facebook group for it seems like a good resource. Ive been on oral vancomycin for about two years and it has normalized my enzymes, at least

View on HN

You should try to convince the others on the Facebook groups to undergo full genome DNA sequencing (around $1K USD, usually not covered by insurance, I would pay for the other patients if I were you, their data is more than worth it given it’s your life on the line) and submit the data to patient networks and orphan drug groups. There are lots of bioinformatics methods now (thanks to mostly advances in ML among other things) that can derive insights into the problem, without any physical assays or laboratory tests.

DNA sequencing has been done, we know the HLA[1] is a part of the disease. I don't think any more DNA will help find a cure or even a way to help. PSC is a complex "black box" disease. A person can have the DNA but not have the disease.

BUT... bile and fecal samples still seem to be of high value for data collection. I've spoken with the doctors at PSC Partners to start advocating this collection, but they've noted that they don't have a way to process and store. Yet other clinicians have been doing this. I want to look into this more to help bring it all together (data is fun!), but haven't had to the time (single parent).

[1] https://en.wikipedia.org/wiki/Human_leukocyte_antigen

Reply on news.ycombinator.com