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.

Inherited inhibition of inborn immunity – an integrated molecular genetic approach to discover novel human gene defects

Project Coordinator

Hannover Medical School Pediatric Hematology/Oncology


Jean Donadieu Hôpital Trousseau AP HP Registre Français des Neutropénies Congénitales Service d'Hémato-Oncologie Pédiatrique Paris, France
Josef Penninger Institute of Molecular Biotechnology (IMBA) of the Austrian Academy of Science Vienna, Austria
Necil Kutukculer Ege University School of Medicine Pediatrics, Division of Pediatric Immunology Izmir, Turkey
Philippe Herbomel Institut Pasteur and CNRS Developmental Biology Paris, France

The goal of this project is to identify novel genetic defects in patients with inherited disorders of myeloid cells, to shed light on the pathophysiology, to improve patient care, and ultimately to provide the basis for innovative gene-based therapies. This will be achieved by means of an international interdisciplinary network, including established patient registries, and by expanding the frontiers to countries in which the prevalence of consanguinity facilitates the identification of novel genes involved. Importantly, comprehensive clinical investigations will be critical to define novel nosological entities. Underlying genetic defects will be discovered using SNP-array based homozygosity mapping and candidate gene sequencing. Patient cohorts will be screened to assess the frequency of newly identified genetic mutations and to establish genotype-phenotype correlations. Extensive functional studies will be performed in vitro to validate the role of sequence variants, including functional complementation experiments, biochemical, immunological, and imaging studies. An innovative feature of NEUTRO-NET is the integrative view of genetic data from human patients, zebrafish (Danio rerio), and fruit fly (Drosophila melanogaster). By comparing human genetic data with data obtained in mutagenesis screens for myeloid cell dysfunction in zebrafish and flies, NEUTRO-NET partners will rapidly proceed in identifying novel genetic defects. Furthermore, use of these powerful genetic model organisms will allow us to study epistatic relationships between various defective genes and pathways

E-Rare 2012 - Created by Toussaint Biger