Objectives

For over 330 million people affected by genetic rare diseases (RD) timely diagnosis and development of specific treatments are crucial. While Europe is at the forefront of RD research, this project highlights a significant gap in research and innovation (R&I) between countries.

BRIDGING-RD focuses on bridging this gap, by networking and knowledge sharing between IMGGE (Institute of Molecular Genetics and Genetic Engineering, Serbia) and project partners: KI (Karolinska Institute, Sweden), CNAG (National Center for Genomic Analysis, Spain) and UAM (Autonomous University of Madrid, Spain). Project’s main objectives are to:

1. Upgrade the IMGGE RD Biobank to reach full interoperability of genetic and phenotypic data in order to increase participation in transnational research and innovation projects related to human health

2. Upgrade bioinformatics pipelines specific to RD to increase the rate of solved RD cases in IMGGE’s RD Biobank

3. Upgrade capacity for modelling of metabolic diseases as well as capacity to test small molecule drugs, in order to increase the number of translational studies.

4. Upgrade research support offices (including Project Management office and administration unit) in order to increase success in obtaining funds from research and/or innovation agencies, industry, foundations etc.

Building on these objectives, an exploratory R&I project involving all partners will be implemented. The focus will be on identifying an innovative drug, pharmacochaperone, for a selected metabolic rare disease, leveraging on the established collaborations, shared expertise and resources. Besides this scientific goal, this R&I project will aim to improve creativity and strengthen the network between all partners.