Funding transnational collaborative research through joint transnational calls is one of the major objectives of E-Rare. This is the most important and effective joint activity to enhance the cooperation between European scientists working on rare diseases and thus reducing the fragmentation of research in this field. E-Rare launches calls on a yearly basis. The topic and eligibility criteria are specified every year and therefore may vary from one call to the other.

Therapeutic approaches for treatment of hereditary lymphedema

Project Coordinator

University of Lausanne and University Hospital (CHUV)


Stefan Schulte-Merker University of Münster Münster, Germany
Andrea Brendolan Ospedale San Raffaele Milan, Italy

Lymphatic system plays crucial roles in the regulation of tissue homeostasis, nutrient uptake and immune response. Damage of lymphatic vasculature results in the development of lymphedema, characterized by the excessive tissue swelling, fibrosis and decreased immune response. To date, mutations in 9 genes were reported to be responsible for the development of hereditary lymphedema, a rare debilitating disease, for which no curative treatment exists at the moment. Experimental evidence indicate the existence of different lymphedema subtypes, arguing that multiple strategies need to be evaluated to develop efficient treatments of hereditary lymphedema. We have recently developed preclinical models of two hereditary lymphedema subtypes, Hennekam syndrome and lymphedema-distichiasis. Here we propose to test adenoviral-based gene therapy, pharmacological approaches and tissue engineering, in order to develop rational and novel strategies for restoration of lymphatic vascular function. The proposed transnational collaboration will bring together three groups from Switzerland, Italy and Germany, creating a unique combination of expertise in lymphatic vascular biology, immunology, gene therapy and tissue engineering. This collaboration will combine existing reagents and technologies to provide critical mass for a rational avenue to efficiently address an unmet medical need, which so far received little attention from the mainstream biomedical and clinical research.

E-Rare 2012 - Created by Toussaint Biger