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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

  1. What are rare diseases?
  2. Mechanisms of rare diseases
  3. Inheritance of rare mitochondrial diseases
  4. Example: Red blood cell and rare anaemias
  5. Example: Lysosomal storage diseases
  6. Role of biobanks in rare diseases
  7. Cohort study design and rare diseases
  8. Clinical trial designs for rare diseases
  9. 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

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2. Mechanisms of rare diseases

By Prof. Eamonn Maher – University of Cambridge, UK

An excerpt from Mechanisms of human genetic disease

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3. Inheritance of rare mitochondrial diseases

By Prof. Eamonn Maher – University of Cambridge, UK

An excerpt from Mitochondria in health and disease

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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

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5. Example: Lysosomal storage diseases

By Prof. Fran Platt – University of Oxford, UK

An excerpt from Lysosomal storage diseases

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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

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7. Cohort study design and rare diseases

By Dr. Rana Ismail – Michigan State University, USA

An excerpt from Overview on cohort study design

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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

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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

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