One key objective of the EJP RD is to better inform and train the rare disease community as well as increase awareness and interest on rare disease research from students.
To this end, an educational academic course on transversal and multidisciplinary aspects of rare diseases research open to all stakeholders has being developed as a fully online format.
EJP RD MOOCs are free and open to anyone, although there are designed for individuals with a prior interest in rare diseases research, especially postgraduate students and medical students.
Patient advocacy representatives and advocates as well as health professionals who want to deepen their knowledge in rare diseases research could also find the MOOCs of interest.
Discover the role of research, clinical investigation and data sharing in diagnosing rare diseases.
This course offers an exploration of key questions around rare disease diagnostic research and issues today, as well as insights into patient experiences.
On this five-week course from the European Joint Programme on Rare Diseases, you will discover more about the progress made through diagnostic research, as well as the types of genetic tests available for rare diseases, and the impact of having a diagnosis – or lacking a diagnosis – on patients’ lives. You’ll explore technological advances in medical research and rare disease diagnosis, and discover the importance of data sharing, as well as the role of technology in the context of understanding the human genome. This course also offers you the opportunity to gain insight into the lives of patients living with a rare genetic disease.
The topics covered include
- The diagnostic process and the types of genetic tests available for rare diseases
- The differences in rare genetic diseases patient pathways
- Technological advances for diagnostic research
- The role of collaborative studies and data sharing in rare diseases diagnosis
- The impact of having a diagnosis or lacking a diagnosis on patients’ lives
- The role and place of physiopathology approaches as well as social sciences research in the context of rare diseases diagnosis.
- Learners will gain insight into patients’ experiences, will discuss key issues relating to this topic and will also have the possibility to undertake their own internet-based investigations.
Gain an overview of the issues, challenges, and opportunities in translating research findings into treatments for rare diseases.
On this five-week course from the European Joint Programme on Rare Diseases, you’ll explore the therapeutic development process from the unique perspective of rare diseases.
This course is intended to give an overview of the medicine developmental process for rare diseases. You will discover how the results of the research done in laboratory are used to develop new treatments and how they are finally brought to the market. Experts in the field (researchers, clinicians, industrialists) will explain you which are the specific challenges related to the development of orphan drugs and how they could be overcome. You will also figure out how rare disease patients could be crucial in promoting and supporting the different phases of the translational process.
You will finally examine the special regulatory frameworks of medicines intended for rare diseases.
The topics covered include:
- The landscape of translational research
- The different phases and main stakeholders of translational research
- The specific issues encountered when developing a treatment for a rare disease and how they are overcome
- The different therapeutic approaches for the treatment of rare diseases
- The role and place of patients living with a rare diseases in this translational process
This course is designed for researchers and students in medicine and health-related research fields, as well as healthcare professionals wanting to further their knowledge of translational research in rare diseases. It is also suitable for biotech and start-up developers and Patients Advocacy Organisation representatives who want to increase their understanding of current practices in therapeutic developments for rare diseases.