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
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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.
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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