Genetics

[DickD]

Kirrilee,

This is such an important and current topic, I’ve moved it to the AVM 101 category.

Jaz, I also saw this post the other day, which again covers the UCL and GOSH work:

I'm not a candidate for embolization

Maybe you’ve already seen this but recently there was a study published by University College London Institute of Child Health and Great Ormond Street Hospital (GOSH) .“They found four faulty genes that could trigger the condition, all involved in the signalling pathway between cell surface receptors and the nucleus. The same gene mutations are also involved in the growth of many cancers. There are several licensed cancer drugs that target the faulty RAS-MAPK pathway. The discovery means doctor…

I know HHT is a genetic condition that would indicate AVMs. I’m less familiar with VHL. In both cases, you’d expect doctors only to recommend genetic screening where the relevant indicators for either condition are present.

I’m very interested to read about the article than Jaz posted. Once I’ve had a read, I might chat a bit more.

Thanks for asking this question and to Di, Jaz and @KoalaLove for their posts.

Richard