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OK, long ramble, ignore if you want but just some cool real life genetic interest ahead.

When I was a teen (and some of you oldies might remember me talking about this back in 2010) I was diagnosed with intraneural perineurioma on my femoral nerve. Basically it's just a benign tumor on the outside of your nerve. I've had muscle atrophy and loss of sensation in my right leg since I was about 16, doesn't really effect me much, I just fall sometimes. Still ride horses, walk a lot, etc.

ANYWAY. Today is national rare disease awareness day and I decided to google up my little disease and see if there was any new info about it this past decade. And what do you know? A neurologist at the Mayo clinic recently published a journal that linked intraneural perineurioma to a mutation on the TRAF7 gene and suggests genetic therapy as an avenue of treatment.

Well heck I said, I took 23andme a couple years ago and saw I was used in a study on segment deletion and had no idea what was up with that... well now I know thanks to my raw data and this article.



But now I have a lead on a doctor that is studying this thing and might find my case useful! So I am excited.