Rare versus common diseases: a false dichotomy in precision medicine

Area of Science:

• Genomics
• Precision Medicine
• Drug Discovery

Background:

• Global precision medicine initiatives aim to sequence millions of human genomes.
• Strategic planning debates resource allocation between rare and common diseases.

Purpose of the Study:

• To demonstrate that infrastructure for rare diseases can be extended to common diseases.
• To propose a new strategy for identifying drug targets in common diseases using human knockouts.

Main Methods:

• Extending organizational and governmental infrastructure from rare to common disease research.
• Utilizing sequencing technology to identify naturally occurring human knockouts.
• Shifting research focus to identifying and phenotypically screening for desirable traits.

Main Results:

• The infrastructure and technology for rare diseases are adaptable for common disease research.
• A strategy focused on human knockouts can identify drug targets for common diseases.
• This approach redefines 'rare' and 'common' based on final pathways rather than underlying causes.

Conclusions:

• Rare disease initiatives provide a scalable model for common disease research.
• Human knockout strategy offers a novel approach to drug target identification for common diseases.
• Precision medicine can effectively address both rare and common diseases through integrated strategies.