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.

The Netherlands
Targeting unknowns in causes and phenotypes of the Cornelia de Lange Syndrome

Project Coordinator

Institute of Human Genetics University of Lübeck


Erwan Watrin Institut de Génétique et Développement Faculté de Médecine de Rennes Rennes Rennes, France
Kerstin Wendt Department of Cell Biology Erasmus Medical Center Rotterdam Rotterdam, The Netherlands

Cornelia de Lange Syndrome (CdLS) is a rare genetic developmental disorder with characteristic morphological anomalies, cardiac defects, growth retardation and cognitive delay. All mutations identified so far affect five genes coding for structural or regulatory components of cohesin. This DNA-bound complex functions in chromatin-related processes as diverse as chromosome segregation, DNA damage repair, transcription control and chromatin structure. To date mutations in these five genes account for only ~60% of patients with CdLS and the underlying pathobiological mechanisms remain largely unknown.

The EU-funded TARGET-CdLS project aims to close these gaps by identifying novel causes of CdLS and mechanistic defects caused by these mutations using NGS techniques (e.g. exome sequencing), functional (4C, ChIP-sequencing) and proteomics approaches. The collected information will help to explain the correlation between genotype and phenotype of patients and improve diagnosis and prognosis of patients with CdLS.

E-Rare 2012 - Created by Toussaint Biger