Researchers have found the genetic cause of a blood-vessel disorder that can cause deadly bleeds and stroke. Scientists at University College London Institute of Child Health and Great Ormond Street Hospital (GOSH) who led the study, called it an "enormous step" towards understanding and treating arteriovenous malformation (AVM). And they now believe targeted cancer drugs may be able to treat it...More information and a brief video at the BBC source. The JCI is an absolutely top-notch peer-reviewed journal for cutting-edge basic medical science; the referenced article is here.
Teams in London, Edinburgh and Cambridge, collaborated on the research, published in the Journal of Clinical Investigation. The researchers took biopsies from 160 children with blood vessel disorders including AVMs and sequenced the DNA in the affected tissue. 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 doctors now have the potential to treat AVMs with cancer drugs.
Here is the link for the Butterfly AVM Charity.