Project description DEENESFRITPL Towards an improved understanding of processes behind genetic-driven Rare Diseases Each Rare Disease (RD) affects only a small percentage of the population; however, the 6 000 different RDs together cause a major burden, particularly as 90 % of them currently do not have an approved treatment. Approximately 80 % of RDs have a genetic origin and their frequency increases in populations with a high frequency of marriages between genetically related individuals. Turkey has a high rate of such marriages and RDs - twice that of other European Research Area countries. The aim of the EU-funded RareBoost project is to recruit an internationally recognised expert as a leader for the new Unit for Rare Diseases at the Izmir Biomedicine and Genome Center (IBG), to direct its development into a leading basic and translational research centre for RDs. Our improved understanding of the underlying mechanisms and processes that cause genetic-driven RDs will be used to devise new diagnostic and therapeutic approaches, to reduce patient suffering. Show the project objective Hide the project objective Objective Although diseases afflicting less than 1 person in 2000 are defined as rare diseases, the approx. 6000 different rare diseases together cause, nonetheless, a major burden on human wellbeing and the health systems. Over 90% of all rare diseases are currently without approved treatment and approx. 80% of them are genetic in origin. However, the research on rare diseases and the development of new diagnostic and therapeutic approaches is often hampered by limited resources, including patient material and biological models. The frequency of rare diseases increases in populations with a high frequency of consanguineous marriages. Within ERA, Turkey has the highest rate of consanguineous marriages and, consequently, rare diseases are about twice as prevalent in Turkey than in other ERA countries. The aim of this RareBoost project is to attract an internationally recognized rare disease expert (ERA Chair holder) to the Izmir Biomedicine and Genome Center (IBG), where s/he will lead and direct the new Unit for Rare Diseases and guide its development towards an internationally recognized research facility for rare diseases. IBG is perfectly suited for this development, as it is (i) the largest and best-equipped public biomedical research institute in Turkey, (ii) the only nationally recognized Centre of Excellence in the biomedical sciences, and (iii) already made significant steps towards research excellence. This RareBoost project will greatly facilitate IBG’s aim to become a leading basic and translational research centre for rare diseases. Furthermore, by becoming an internationally recognized hub for rare disease research, IBG will act as a guide for the Turkish R&D sector, will facilitate ERA homogeneity and will support the well-being of rare disease patients. Therefore, RareBoost will greatly boost IBG’s ability to increase ERA-wide cohesion, to support innovation for diagnostics and therapies of certain rare diseases, and to reduce patient suffering. Fields of science natural sciencesbiological sciencesgeneticsgenomes Keywords Gene regulation Genomics Epigenetics Mouse genetics Transcription factors Chromatin structure and function Protein complexes Programme(s) H2020-EU.4.c. - Establishing ‚ERA Chairs’ Main Programme Topic(s) WIDESPREAD-06-2020 - ERA Chairs Call for proposal H2020-WIDESPREAD-2018-2020 See other projects for this call Sub call H2020-WIDESPREAD-2018-2020-6 Funding Scheme CSA - Coordination and support action Coordinator IZMIR BIYOTIP VE GENOM MERKEZI Net EU contribution € 2 499 125,00 Address MITHATPASA CAD. NO:58/5 BALCOVA 35340 İzmir Türkiye See on map Region Ege İzmir İzmir Activity type Research Organisations Links Contact the organisation Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Total cost € 2 499 125,00
