“Yakup’s Journey to Hope” was created in collaboration with the GA4GH Driver Project and The European Joint Programme on Rare Diseases (EJP RD). Follow the story of Yakup as he embarks on a journey to find a diagnosis for his neurogenetic rare disease condition. The video premiere was at the GA4GH plenary 2019. Patient can receive a diagnosis through international collaboration and data-sharing.
The goal is to create a unique platform that does not exist anywhere else, a European multi-sector Partnership for health innovation
Five industry associations representing pharmaceutical, biotech and medical technologies industries operating in Europe (COCIR, EFPIA, MedTech Europe, EuropaBio and Vaccines Europe) have come together to work on a Strategic Agenda for Innovation in Healthcare. This Agenda falls in the framework of the proposed European Health Innovation Public-Private Partnership (PPP) under Horizon Europe. Its objective is to guide future public-private research & innovation that would contribute – alongside other European research funding instruments – to addressing some key European healthcare challenges in an integrated manner.
Today, the private sector is interested to invest in a new health Public-Private Partnership and would like invite citizens, patients, health and research communities, national authorities, academia and scientific societies to provide their input to make sure that this Strategic Agenda:
- aligns with the needs of European health and research communities
- is both ambitious and feasible
- is clearly complementary with other European and national initiatives
Learn more about the proposed partnership and ask questions during a dedicated webinar on 4 November 14.00 CET – register here!
You can contribute to this consultation by filling in the online questionnaire until 24 November midnight. If you are unable to use the online questionnaire, please send your contribution to contact(at)EUHealthPPP.org
Dr. Aartsma-Rus is a professor in translational genetic and a member of IRDiRC Therapies Scientific Committee. In this video she tells us why IRDiRC is needed in the rare disease field and why it is important have different stakeholders collaborating. IRDiRC does it and all its members are committed to reach the new IRDiRC goals for 2027:
- Develop the means to diagnose patients with suspected rare diseases within one year of coming to medical attention
- Develop 1,000 new therapies for rare diseases and particularly for diseases with no approved treatment
- Create methods for assessing the impact of diagnoses and therapies on rare disease patients
11 – 14 March 2020. Berlin, Germany
EARLY REGISTRATION IS OPEN, SUBMIT YOUR ABSTRACT!
The BLACKSWAN Foundation and IRDiRC, the International Rare Diseases Research Consortium, are glad to announce the RE(ACT) Congress and IRDiRC Conference 2020 – Berlin, Germany 11-14 March.
This joint event will continue the RE(ACT) Congress series (6th edition) and IRDiRC Conference series (4th edition). It aims to bring together scientific leaders and experts and young scientists from a variety of breakthrough scientific fields to present cutting-edge research, exchange ideas, and discuss policies related to rare diseases research. Patients and patient organizations, who are committed to research, will also be in attendance to share their experiences and perspectives.
List of speakers is available here.
MARRVEL (Model organism Aggregated Resources for Rare Variant ExpLoration) is a search engine that collects data from a number of human genomics and model organism genetics databases and displays it in a rapid user-friendly format. It was created in 2017 by a group of researchers in the Undiagnosed Disease Network at Baylor College of Medicine as a one-stop data collection tool to facilitate the use of public genetic resources to prioritize rare human gene variants for study in model organisms. The manuscript describing this resource was selected as one of the top 10 papers published that year in the American Journal of Human Genetics . MARRVEL is available online at http://marrvel.org, and is continuously updated to integrate new useful databases as they become available.