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.

Primary monogenic microcephalies : from genetics to pathophysiology and the clinic

Project Coordinator

Robert Debré Hospital


Marc Abramowicz Centre de Génétique Humaine and IRIBHM Brussels, Belgium
Anita Rauch Institut für Medizinische Genetik, Universität Zürich Zürich, Switzerland
Bernd Wollnik University of Cologne, Center for Molecular Medicine Cologne (CMMC) Institute of Human Genetics Cologne, Germany
Christopher Geoffrey Woods Cambridge University Hospital Cambridge, UK

Primary Microcephalies (PMs) are rare heterogeneous disorders resulting from insufficient production of mature neurons. Known causal genes are involved in cell-cycle control, DNA integrity, centrosome and spindle pole organization. Alterations to these processes may lead to isolated PM (MCPH) or PM with dwarfism (Seckel syndrome, microcephalic osteodysplastic primordial dwarfism type 2, Meier-Gorlin syndrome). Causal genes are currently known in 30-50% of patients. In this project, named EuroMicro, 5 teams with extensive experience with PM join forces to gain insights into the natural history of the disease and its underlying mechanisms, which involve basic processes in brain development. The ultimate aim is to improve patient care and become a clinical and scientific resource center for patients with PM in Europe. EuroMicro is divided into 5 work packages: 1) to collect clinical data, genetic data and biological samples from patients with PM and to bank all these data in a common web-based database 2) to explore the molecular mechanisms underlying PM by identifying new PM genes 3) to explore the pathophysiology of PM by studying the cellular and neuropathological phenotypes caused by mutations in PM genes 4) to elucidate defects in neurogenesis using human induced pluripotent stem cells derived from PM patients 5) to characterize patients at the clinical level (natural history, comorbidities, brain imaging, impact of mutations on cognitive functioning and social behavior), in order to detect specific cognitive disabilities and propose suitable remediation strategies.

E-Rare 2012 - Created by Toussaint Biger