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

Project Coordinator

Hôpital Sainte Justine
Québec (Canada)


Jeroen Bakkers Hubrecht Institute Utrecht, The Netherlands
Bart Loeys University of Antwerp Antwerp, Belgium, Flanders
Michel Pucéat INSERM UMR 910 Faculté de Médecine La Timone Marseille, France

When cells in the body take decisions such as how fast they divide or which fate they choose for their development, they need to read and interpret the genetic code. This process is facilitated by proteins that are called the cohesin complex. When these proteins are mutated, several rare diseases can ensue; these diseases are now often referred to as cohesinopathies. Several of them can cause cardiac malformations or other forms of heart disease, in addition to other features such as delayed growth, developmental delay, and others. In this project, we will study in particular two cohesinopathies that affect the heart, namely Cornelia de Lange (CdLS) and CAID syndrome. The goal of our study is to understand at molecular level what these two diseases have in common, and what distinguishes them. Specifically, we are planning to pursue the following aims: 1.) We will create models of disease ‘in a dish’ from cells obtained in patients and controls. This will help us to find out which parts of the genetic circuitry do not function correctly in single cells. 2.) We will study animals engineered to carry the same disease-causing mutations as those found in patients. This will allow us to find out whether identical parts of the genetic circuitry are disturbed in the whole organism. 3.) We will use a screen of all known genes to find interactors that worsen or alleviate disease in cell-based and animal models. These results will help us to better understand a group of rare, devastating disease, and permit a more rational way to identify promising drugs for clinical use.

E-Rare 2012 - Created by Toussaint Biger