Sofia Frisk

Vascular anomalies are rare diseases that may cause important life-long morbidity, including chronic pain, bleeding/ulceration and death. Lately, it has been shown that genetic mosaicism is a common underlying mechanism of vascular anomalies. Although many genes have been discovered, numerous subtypes are still unexplained. Our aim is to decipher underlying genetic mechanisms of vascular anomalies, improve clinical characterization and enable precision-based health care for the patients. The research will be carried out in Prof. Miikka Vikkula’s group because of access to his large biobank of tissue-derived DNA from vascular anomaly patients, user-friendly software sequencing data filtering tools, extensive research network and close clinical collaborations with on-going clinical trials within vascular anomalies. By using the biobank of Prof. Vikkula’s group (based on samples from over 4,000 families (~12,000 samples), and more than 1,700 fresh frozen tissues), we plan to search for low-level mosaic variants in patients without known genetic etiology. We plan to use deep exome sequencing data of tissued derived-DNA and in some cases run droplet digital PCR for verification and quantification of mosaic variants.The available treatments are commonly not curative, and often impossible and/or risky to perform. Hence, there is an important unmet medical need to develop novel treatments. To enable precision-based care, it is important to indetify underlying mechanisms.