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.

Target  audience

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.

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, codeveloped by FFRD, EATRIS, LUMC, ERN EuroNMD and EURORDIS, 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.

The course, codeveloped by FFRD, CVBF and ERN TransplantChild, explores the most recent therapeutic treatments developed within medical research, leveraging advancements in the fields of molecular biology and immunology. such as: gene therapy, protein-based treatments, regenerative medicine, cell therapy and tissue engineering. It also illustrates the concept of personalized/precision medicine, its novelty in comparison to the traditional “one-size-fits-all” approach, and the significance of tailored treatments in the context of rare diseases, along with the challenges that still need to be resolved to allow their application, from a scientific, as well from an ethical and regulatory standpoint.

The topics covered include:

• The challenges related to the treatment of rare diseases and the implications of not having treatment available for a patient.
• The rationale behind the most advanced therapeutic approaches such as: gene therapy, cell therapy, protein-based therapeutics, regenerative medicine, tissue engineering
• The impact of innovative therapies in the treatment of rare diseases
• The concept of personalized/precision medicine, its novelty in comparison to the traditional “one-size-fits-all” approach, and the significance of tailored treatments in the context of rare diseases.
• The different omics approaches and their use in the diagnosis, treatment and prevention of diseases
• The regulatory and ethical issues related to the development of these therapies

This course is intended for individuals who have a strong interest in the most advanced therapeutic approaches developed by medical research, which could provide an unmatched opportunity to treat, modify, or cure rare diseases. It was primarily created for medical students and PhD/post-doc students in biomedical sciences, but it may also be of great interest to representatives of Patients Advocacy Organisations, healthcare professionals, or developers in the biotech/start up industry who wish to enhance their understanding of innovative therapies for rare diseases.

This course, codeveloped by FFRD, ERN Epicare and Fondazione Gianni Benzi,  is meant to illustrate the role of health data in research, with a special focus in the field of rare diseases.

The different actors involved in the data processing activities are  illustrated, as well as the challenges met at the different steps of the data life cycle.

The specific ethics, regulatory and data protection framework surrounding the use of health data for research are presented.

Learners will meet experts in the field, including clinicians, researchers, data scientists and professionals working for relevant European infrastructures, regulatory agencies and industry representatives.

Through their experiences, participants will be able to apply theoretical concepts to real-life situations. Additionally, the course will emphasize the role of individuals living with rare diseases in health data research.

The topics covered include:

• The importance of data use/re-use in (rare disease) research
• The challenges related to the use of health data in research
• The different types of research data and data sources
• The definition and purposes of the FAIR principles for the use of data
• The ethics, regulatory and data protection framework governing data use
• The available resources for conducting research with health data
• The viewpoints of the key parties participating in the processing of data for research purposes: clinicians, researchers, patients, regulatory agencies and industry representatives.

This course is designed for individuals with a keen interest in health data research and rare diseases with a focus on the related ethics and regulatory aspects. Though it is primarily intended for undergraduate students and PhD/post-doc students in biomedical sciences, it may also attract the attention of representatives from Patients Advocacy Organisations, healthcare professionals, researchers, as well as any other professionals looking to improve their knowledge of the ethical and regulatory aspects surrounding health data research in rare diseases

The course, codeveloped by FFRD, ERN Ithaca, ERN Genturis and EURORDIS, explores the advancements made through diagnostic research, the types of genetic tests available for rare diseases and the impact of having or not having a diagnosis on patients’ lives.

It illustrates the technological advances in medical research and rare disease diagnosis, and the importance of data sharing, as well as the role of technology in the context of understanding the human genome. Finally, the course also offers the opportunity to gain insight into the lives of patients living with a rare genetic disease.

The topics 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.

This course is designed for individuals with a keen interest in diagnostic research and rare diseases. While primarily designed for medical students and PhD/post-doc students in biomedical sciences, it will also be of interest to Patients Advocacy Organisations’ representatives, Healthcare professionals or paramedics who want to further their knowledge of rare diseases diagnosis.