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.

An integrated clinical and scientific approach for craniofacial malformations

Project Coordinator

University of Cologne, Center for Molecular Medicine Cologne (CMMC) Institute of Human Genetics


Dagmar Wieczorek University Medical Faculty Essen, University Duisburg-Essen Essen, Germany
Hülya Kayserili Istanbul Medical Faculty Istanbul, Turkey
Nurten AKARSU Hacettepe University Ankara, Turkey
Stanislas Lyonnet Inserm/ University of Paris V Paris, France

Craniofacial malformations affecting head and face can result in severe functional, esthetical, and social consequences for affected individuals. During the first funding period, CRANIRARE ascertained and clinically characterized a substantial number of patients with various craniofacial malformations, which enabled us to standardize clinical classifications, molecular diagnosis, and genetic counselling for these disorders. We successfully identified 18 novel causative genes for 13 different craniofacial disorders and elucidated new conserved molecular pathways important for biological processes of craniofacial development. Moreover, we developed novel technologies for local delivery of bioactive agents to induce bone tissue regeneration. CRANIRARE has received wide recognition on international level and we established a collaboration with the NIH-funded FACEBASE network for common activities und support. Relying on the established CRANIRARE infrastructure, we now aim to extend our work and include 15 additional craniofacial phenotypes (total of 19 phenotypes), to identify the causative genes, and to investigate conserved molecular pathways of identified proteins in cellular systems and zebrafish model. An innovative “next generation sequencing (NGS) education platform” will be established by all partners, aiming to improve transfer of knowledge and education on this high-end technology. We will translate our molecular findings into the establishment of new molecular diagnostic tests by the use of e.g. next generation sequencing and design new therapeutic options based on our novel insights into altered molecular pathways involved in craniofacial malformations. Different innovative dissemination activities are planned and the partners will educate young scientists and medical doctors during our CRANIRARE Summer School, which will further increase the sustained yield of the proposed CRANIRARE project. Continuation of our transnational collaborative work will greatly help to improve patient care of affected individuals by these rare diseases. 

E-Rare 2012 - Created by Toussaint Biger