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.
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Project Coordinator
Partners
Françoise Bachelerie | Institut Pasteur Department of Virology | Paris, France |
Santos Manes | Consejo Superior de Investigaciones Cientificas Immunology and Oncolgy | Madrid, Spain |
Publications of the WHIMPath project
Major results of the project
The WHIM (Warts, Hypogammaglobulinemia, Infections and Myelokathexis) syndrome is a rare human disease characterized by several symptoms, many of which are not clearly understood. Our project set out to study different aspects of the disease, in order to understand the underlying mechanism of pathogenesis. The insight gained should enable the identification of new strategies for rational-‐based therapeutic intervention.
Using a variety of biological techniques, many of which were developed specifically for our project, our work deciphered several unexplored molecular aspects of the disease. Our experiments have enabled us to put forward a molecular explanation for the recurring infections and hypogammaglobulinemia that characterize the WHIM syndrome. Further, they have provided important insight on how the human papillomavirus (HPV) may induce warts in WHIM patients. These results will now enable further studies, towards potential therapeutic strategies.
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For more information ABOUT E-Rare please contact:
E-Rare Coordinator
Daria JULKOWSKA
Tel.: +33(0) 1 78 09 80 78
+33(0) 6 20 14 13 81
daria.julkowska@agencerecherche.fr
Agence Nationale de la Recherche - ANR
Health & Biology Department
50 Avenue Daumesnil
75012 Paris, France