Rare diseases - Maria Beltran

Maria Beltran Poy

Medicine AND rARE DISEASES

25.04.24

Sources: eurodis.org, Wikipedia, OMS, Rare diseases Org., World

Introduction

Sandra's Story

INDEX

Video

Rare diseases

Conclusion

Clinical Trials

Introduction

What's medicine?

Health science dedicated to prevention

Rare diseases

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

Purpose of the presentation

Understanding of rare diseases

Rare diseases

What are they?

• Wide diversity of symptoms

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

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

Examples

Rare diseases and their cures

• 8000 rare diseases
• Only 500 treatments, not cures
• More than 1000 clinical trials

Current Clinical Trials

Clinical Trials

What are they?

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

Huntington's Disease

Cystic Fibrosis

Sandra's Story

Her life with ALS

Sandra's Story

Her life with ALS

THANKS FOR YOUR ATTENTION

Maria Beltran Poy

Achondroplasia