Health Data Ethics & Regulatory Frameworks in Rare Disease Research

Syllabus

• Week 1

  Introduction

  • Welcome & introduction

    In week1, you will explore the different types of research data and sources, understand the relevance of health data in rare disease research, and tackle the related challenges and the strategies for overcoming them.

  • Setting the scene

    In this subactivity, you will be introduced to the definition and context of rare disease. You will also learn about the different types of data and their sources, as well as their different applications.

  • Data sources and patients' registries

    In this section, we will explore the various data resources and how data is encoded to improve its management and operability. We will focus specifically on patients' registries and their role in rare disease research.

  • Opportunities and challenges to use data in rare disease research

    What makes data crucial in the realm of rare diseases? What are the primary obstacles and advantages that arise from the sharing of data, especially in this particular field?

  • Check your knowledge

    What have you learnt and understood this week? Test your knowledge with a multiple choice quiz and reflect on the week's content.

• Week 2

  Handling health data for rare disease research purposes

  • Introduction to week 2

    In this week we will discuss data collection and processing in rare disease research. You will also get introduced to the FAIR principles, the data life cycle, the Orphanet nomenclature and to several key data resources.

  • How to collect and manage health data

    What is meant by processing data? Why is this a critical process? What concrete actions should be taken during data processing? What are its specific challenges in the context of rare disease?

  • FAIR principles and data life cycle

    The FAIR principles, standing for Findability, Accessibility, Interoperability, and Reusability, provide guidelines for enhancing the management and sharing of digital data.

  • Platforms and tools to collect and manage health data

    Explore Orphanet nomenclature, Orphacodes, and their role in data interoperability and management. Discover key data resources for research like the EJPRD Virtual Platform.

  • Check your knowledge

    What have you learnt and understood this week? Test your knowledge with a multiple choice quiz and reflect on the week's content.

• Week 3

  Ethics and regulatory considerations

  • Introduction to week 3

    The focus of this week will revolve around three key subjects: the laws governing data protection, the ethical considerations, and the regulatory factors involved in handling health data for research purposes.

  • Data protection framework

    What is the EU GDPR? What rights EU GDPR assigns to data subjects? How does it govern data ownership, access, and sharing?

  • Ethics considerations

    Here we explore the concepts of consent procedures and ethics approval. You will get introduced to the challenges related to (genetic) data sharing in rare diseases and the rights granted when the data subjects are children.

  • Regulatory considerations

    Here we discuss how real world data is used for regulatory purposes, with a special focus on RD research. The challenges related and possible solutions are illustrated. Research tools and EMA-qualified methods are also presented.

  • Check your knowledge

    What have you learnt and understood this week? Test your knowledge with a multiple choice quiz and reflect on the week's content.

• Week 4

  How it works in practice

  • Introduction to week 4

    In this week, we will explore the aspects that different parties involved should consider when handling, collecting, or sharing data: researchers, clinicians, patients, regulatory authorities and industry.

  • I am a researcher: what should I pay attention to when processing rare diseases data?

    With the expert guidance of Prof. Schaefer and Dr. Cornet, we will delve into the difficulties that researchers meet when attempting to fully maximize the capabilities of data in rare disease research and how they can be ovecome.

  • I am a clinician: what is my role in making sure data will be fit and accessible for research?

    How can clinicians ensure data is collected for research in a usable and accessible manner? How can they address challenges related to data fragmentation? How a biobank works? How is information shared with patients?

  • I am a patient: how can I contribute and access information?

    Here we will explore how patients’ participation and engagement in research and healthcare delivery can be ensured by acknowledging and fulfilling their desires and needs.

  • Regulatory authorities: what is their role in processing data?

    Here we will explore how EMA (the European Medicine Agency) processes and utilizes health data to undertake studies that support EMA decisions, as well as the EMA ongoing activities in the data and rare disease fields.

  • Industry: what is their role in processing data?

    How is data used in the pharmaceutical industry? How industry approaches health data research, by ensuring the ethical use of patients’ data and by complying with the EU GDPR? What are the challenges faced related to RD data use?

  • Check your knowledge

    What have you learnt and understood this week? Test your knowledge with a multiple choice quiz and reflect on the week's content.

Who will you learn with?