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Lymphovascular disease is an underdiagnosed and heterogeneous group of diseases and that can occur sporadically in a solitary form or as part of an underlying rare syndromal disease (such as overgrowth syndromes with vascular involvement).

Together with Dr. Dr. René Hägerling, we have established a multicenter collaboration with departments of pediatric vascular surgery, plastic and reconstructive surgery, and centers for vascular malformations to enable quicker diagnosis in affected individuals and to provide appropriate care for their families.

Using high-throughput sequencing technologies, we perform an analysis of the protein-coding region of the human genome from DNA of the blood sample and affected tissue sample. The identified genetic variants are then bioinformatically analyzed and functionally validated, if necessary. This comprehensive genetic diagnosis enables molecular genetic diagnostic confirmation as well as the identification of new candidate genes causing lymphovascular diseases. This plays an essential role in understanding the pathogenesis of the diseases and opens a new opportunity for the establishment of further therapeutic approaches.

In parallel with the sequencing, cell lines are established from the affected tissue for each patient. These will be used in downstream in vitro testing to assess the efficacy of FDA-approved drugs individually for each patient. The results will be used supportively in the context of clinical treatment decisions. This translational approach is intended to enable targeted therapy in the sense of personalized medicine and thus reduce the side effect profile of therapy.

The research project team is in close contact with the attending physicians. Interdisciplinary case conferences are organized on a regular basis, which allows a good and complete clinical characterization of the affected individuals and provides an excellent basis for the phenotype-based evaluation of the collected genetic data.

Altogether, the described project will provide a basis for an innovative and interdisciplinary patient care concept for personalized medicine for patients with lymphovascular diseases.