Periodic Reporting for period 1 - RareBoost (Boosting the Rare Disease research and innovation capacity of the Izmir Biomedicine and Genome Center)
Reporting period: 2020-10-01 to 2022-03-31
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.
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.
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.
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.
• 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.