Hacker News new | past | comments | ask | show | jobs | submit login

Same chemistry different DNA. Based on the 1000 genome each person has roughly 150 known pathogenic rare mutations. And vastly more currently unknown pathogenic. People inherit ~2 to 3 million SNPs from a collection of 700m SNPs.

So doctors are looking for rare conditions in 1 of 10 people, where we all have rare conditions and a lot of them. We are walking bags of rare conditions. Thankfully there are direct to consumer While Genome Sequencing which is pretty easy to find your SNPs and look up which ones are attached to studies about being pathogenic.

I figured out that I have pathogenic TNXB mutation myself despite the gaslighting of many doctors for many years and WGS confirmed it.

It’s a totally different way of doing medicine that bypasses doctors.

Interestingly enough one of the treatments for my specific mutation is one sub class of anti depressant.




Guidelines | FAQ | Lists | API | Security | Legal | Apply to YC | Contact

Search: