Rare Diseases
This learning journey aims to provide an introduction to rare diseases and their underlying mechanisms. It delves into a few illustrative examples and emphasizes the significance of biobanks. Moreover, it covers the process of designing cohort studies and clinical trials tailored for rare diseases.
Table of Contents
- What are rare diseases?
- Mechanisms of rare diseases
- Inheritance of rare mitochondrial diseases
- Example: Red blood cell and rare anaemias
- Example: Lysosomal storage diseases
- Role of biobanks in rare diseases
- Cohort study design and rare diseases
- Clinical trial designs for rare diseases
- Key considerations for clinical trials on rare diseases
1. What are rare diseases?
By Dr. Anne Pariser – National Institutes of Health, USA
An excerpt from Clinical trial designs for rare diseases 1: trial designs
2. Mechanisms of rare diseases
By Prof. Eamonn Maher – University of Cambridge, UK
An excerpt from Mechanisms of human genetic disease
3. Inheritance of rare mitochondrial diseases
By Prof. Eamonn Maher – University of Cambridge, UK
An excerpt from Mitochondria in health and disease
4. Example: Red blood cell and rare anaemias
By Prof. Emeritus Joan-Lluis Vives Corrons – Josep Carreras Leukaemia Research Institute, Spain
An excerpt from Diagnosis and management of hereditary spherocytosis and elliptocytosis
5. Example: Lysosomal storage diseases
By Prof. Fran Platt – University of Oxford, UK
An excerpt from Lysosomal storage diseases
6. Role of biobanks in rare diseases
By Dr. Elvira Mambetisaeva – University College London, UK
An excerpt from Biobanks and their role in biomedical research
7. Cohort study design and rare diseases
By Dr. Rana Ismail – Michigan State University, USA
An excerpt from Overview on cohort study design
8. Clinical trial designs for rare diseases
By Dr. Anne Pariser – National Institutes of Health, USA
An excerpt from Clinical trial designs for rare diseases 1: trial designs
9. Key considerations for clinical trials on rare diseases
By Dr. Anne Pariser – National Institutes of Health, USA
An excerpt from Clinical trial designs for rare diseases 2: trial protocols