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Medicine AND rARE DISEASES

Maria Beltran Poy
Sources: eurodis.org, Wikipedia, OMS, Rare diseases Org., World
25.04.24

INDEX

Introduction

Rare diseases

Clinical Trials

Sandra's Story

Video

Conclusion

Understanding of rare diseases

Health science dedicated to prevention

Conditions affecting a small percentatge of population They affect 10% of the total population

Introduction

What's medicine?

Rare diseases

Purpose of the presentation

Huntington's diseaseCystic fibrosisDuchenne Muscular DystrophyALS (Amyotrophic Lateral Sclerosis)Marfan Syndrome

Rare diseases

What are they?
  • Due to low prevalence
    • Medical expertise =RARE
    • Knowledge = SCARCE
    • Care offerings = INADEQUATE
    • Reaserch = LIMITED

Examples

  • Wide diversity of symptoms
Rare diseases and their cures
  • 8000 rare diseases
  • Only 500 treatments, not cures
  • More than 1000 clinical trials
Cystic Fibrosis

Clinical Trials

What are they?

  • Research studies
  • Potential treatments or interventions
  • Crucial for developing

Current Clinical Trials

Huntington's Disease

Her life with ALS

Sandra's Story

Her life with ALS

Sandra's Story

THANKS FOR YOUR ATTENTION

Maria Beltran Poy

Achondroplasia