Rare diseases - Maria Beltran
Maria Beltran
Created on March 23, 2024
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Transcript
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