Genes and vascular malformations

Over time, researchers are gaining more clarity about which genes are involved in which conditions, and vice versa. One of these researchers is Prof. Dr. Miikka Vikkula (one of our advisors). He has developed and maintains a timeline that links specific genes (potentially) to certain vascular malformations.

Miikka Vikkula is also one of the authors of an article on this subject, published in 2024 in the Orphanet Journal of Rare Diseases, titled “Assessment of Gene–Disease Associations and Recommendations for Genetic Testing for Somatic Variants in Vascular Anomalies by VASCERN-VASCA.”

Below is a summary of this article.

The full article

Background

Vascular anomalies are abnormalities of the blood vessels that can range from small, harmless issues to complex syndromes. These conditions are often caused by somatic (non-inherited) genetic changes that occur after birth. Advances in genetic technologies have made it possible to better understand these changes, improving diagnosis and treatment options.

Results (please note: this is a snapshot)

A team of European experts identified 24 key genes linked to vascular anomalies. They evaluated how strongly each gene is associated with specific conditions. These findings provide a foundation for accurate genetic testing and targeted therapies.

Conclusions

This study outlines recommendations for genetic testing to help diagnose vascular anomalies. It emphasizes the importance of focusing on specific genes and provides insights into how labs can standardize their testing methods for better results.

Technical Recommendations

For reliable genetic testing, DNA should be taken from affected tissue (such as through a biopsy). Advanced techniques like deep sequencing and digital PCR are critical to detecting even small genetic changes.