Project: The European Ribosomopathy Consortium

Acronym	RiboEurope (Reference Number: EJPRD19-284)
Project Topic	The ribosome is a fundamental piece of molecular machinery that is responsible for translating messages containing instructions for the synthesis of protein chains. A group of rare diseases, known as “ribosomopathies”, occur when inherited genetic mutations impair the synthesis and function of ribosomes. The EuroDBA consortium was created in 2012 to bring together clinical and biological researchers of the ribosomopathy Diamond-Blackfan anemia (DBA). This new phase of the consortium, titled RiboEurope, will broaden the focus of the rare diseases we study to include other inherited bone marrow failures linked to impairment ribosome synthesis or function. We have been successful in biobanking cell lines from over 100 patients that have a known ribosomopathy such as DBA or Shwachman-Diamond syndrome (SDS), as well as about 1/3 of these who remain “unknown”. One major goal of this proposal is to perform in-depth profiling of all our biobanked cell lines. We will profile their metabolic signatures, the specific way ribosome biogenesis is impaired, and how the cells respond to death signals. The goal here is to develop standardized diagnostic profiles that can be used to rapidly predict specific gene mutations. We will also bring a special focus to the groups of “unknown” patients in our registries where a ribosomopathy is suspected but no indicative gene mutation is evident. We have a pipeline in place for “solving the unsolved” which has already been successful in finding and characterizing several new genes that drive ribosomopathies and diseases that look like them.
Network	EJP RD
Call	1st EJP RD Joint Transnational Call for Rare Diseases Research Project (JTC 2019)

Project partner

Number	Name	Role	Country
1	Centre National de la Recherche Scientifique	Coordinator	France
2	Université Libre de Bruxelles	Partner	Belgium
3	Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases	Partner	Austria
4	University of Freiburg	Partner	Germany
5	Amsterdam University Medical Center	Partner	Netherlands
6	Robert Debré Hospital	Partner	France
7	Medical University of Warsaw	Partner	Poland
8	Hacettepe University	Partner	Türkiye