MRC Human Genetics Unit
Medical Research Council Human Genetics Unit

Cancer drugs could transform the lives of children with blood vessel defects

Drugs normally used to treat cancer could reduce the disfigurements of thousands of children born with life-threatening blood vessel defects: February 2018

Blood Vessel

A collaborative research study has been able to pinpoint the group of genes responsible for causing blood vessel defects in Arteriovenous Malformation (AVM). For the first time, they have also identified drugs which could target the underlying cause of the condition.

An AVM is a tangle of abnormal and poorly formed blood vessels and can occur anywhere in the body, including birthmarks. This condition affects hundreds of thousands of people across the globe, in which abnormalities in blood vessels lead to painful facial or other disfigurements, life-threatening bleeding and increased risk of complications like stroke.

Until now, effective treatment options have been severely limited, with the only options being embolization to prevent blood flow to an area of the body or surgery to try to stop growth, or reduce the swellings.  However, these treatments often lead to the blood vessels growing back. 

Research undertaken by a team of scientists from the Great Ormond Street Hospital (GOSH), the UCL Great Ormond Street Institute of Child Health (ICH), Dr Elizabeth Patton’s Research Group at the MRC Human Genetics Unit within the MRC IGMM and Dr Robert Semple’s laboratory at the University of Cambridge, has now opened the door for highly personalised medical treatment for children with this debilitating condition.

The ground-breaking study, which involved testing the DNA of over 150 children with blood vessel defects, including AVM, discovered that a proportion of patients had faults in the group of genes known to be involved in cancers but not previously known to be responsible for the correct formation of blood vessels in the womb.  Four genes were found to be faulty in different patients, all on the so-called ‘RAS/MAPK’ pathway which controls cell growth. This discovery enabled researchers to identify widely used cancer drugs, MAPK pathway inhibitors, which are normally used to counteract faults in the RAS/MAPK genes in cancer cells, as a new potential treatment for AVM.

When tested in the lab on fish with abnormal blood vessels, the drugs reduced the size of the blood vessel swellings and increased blood flow. The research, led by Dr Veronica Kinsler, Consultant Paediatric Dermatologist at GOSH and Principal Investigator and Wellcome Trust Fellow at ICH, will now be tested in an international clinical trial, planned to start next year.


The study was published online by the Journal of Clinical Investigation on 20 February and will appear in print on 12 March 2018. DOI: 10.1172/JCI98589