Boosting the Rare Disease research and innovation capacity of the Izmir Biomedicine and Genome Center

Project Information

RareBoost

Grant agreement ID: 952346

DOI

10.3030/952346

EC signature date 10 June 2020

Start date 1 October 2020

End date 30 September 2027

Funded under

• Establishing ‚ERA Chairs’

Total cost

€ 2 499 125,00

EU contribution

€ 2 499 125,00

Coordinated by

IZMIR BIYOTIP VE GENOM MERKEZI
Türkiye

Periodic Reporting for period 2 - RareBoost (Boosting the Rare Disease research and innovation capacity of the Izmir Biomedicine and Genome Center)

Reporting period: 2022-04-01 to 2024-06-30

Summary of the context and overall objectives of the project

Although each rare disease affects only a small percentage of the population; the approximately 6000 different rare diseases together are, nonetheless, a major burden to human wellbeing. In particular, as 90% of them currently do not have an approved treatment. Rare diseases are about twice as prevalent in Turkey than in other ERA countries, due to the high frequency of marriages between genetically related individuals. The ERA Chair project RareBoost aims to facilitate the development of the Izmir Biomedicine and Genome Center (IBG) into a leading research and innovation centre for rare diseases. This will be achieved by the following main objectives: (1) Recruiting an ERA Chair holder who helps to develop the research and innovation capacity of IBG’s Unit for Rare Diseases towards international excellence. (2) To establish IBG as an internationally recognized hub for rare disease research and innovation within a cooperative network of partners in the academic, private, and public sectors. Thereby, 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.

Work performed from the beginning of the project to the end of the period covered by the report and main results achieved so far

RareBoost is structured into six work packages (WPs):
Within WP1 ‘Project Management’ standard management actions were carried out to coordinate the project. Furthermore, the management structures were implemented, including the establishment of the Steering Committee and the Project Management Office.
Within WP2 (Recruitment of the ERA Chair holder and set-up of IBG’s Unit for Rare Diseases), the first milestone (hiring of the ERA Chair holder) was achieved. With Dr. Ioannis Ragoussis (McGill University Genome Center, Montreal, Canada), RareBoost has an internationally recognized expert on genomics and next-generation sequencing as its ERA Chair holder. However, the set-up of the Unit for Rare Diseases is delayed as the relocation of the ERA Chair holder to IBG is also delayed.
Within WP6 (Networking, communication and dissemination to stakeholders), RareBoost’s website and social media accounts (Twitter, LinkedIn and Facebook) were established and are maintained. First contacts with the media and other stakeholders were established and information material about RareeBoost and rare diseases was published. In cooperation with national rare disease patient organizations a video about research on rare diseases and a public ‘Rare Diseases Panel’ was organized.
The WP3 (Research capacity building), WP4 (Soft skill capacity building), and WP5 (Smart specialization and innovation) have not formally started as we are awaiting the relocation of the ERA Chair holder Dr. Ragoussis to IBG.

Progress beyond the state of the art and expected potential impact (including the socio-economic impact and the wider societal implications of the project so far)

The following expected impacts are anticipated for the progress achieved so far on the RareBoost project:
• Full integration of the ERA Chair holder and his team members into IBG’s internal structures.
• Strengthening the research and administrative aspects of RareBoost.
• Increased visibility of IBG via improved relationships with national and international stakeholders.

RareBoost objectives