Lecture on Genetic Research and Disease Prevention
Introduction
Speaker's Background: Oncology at Children's Hospital in Philadelphia.
Key Moment: Encountered a father and son with inherited eye tumor, retinoblastoma.
Impact: Led to discovery of the first cancer susceptibility gene.
Advances in Genetic Understanding
Seismic Shift: Significant advances in understanding genetic variations behind diseases over the past decades.
Current Reality: While diagnostics have improved, drug development efficiency remains stagnant.
Challenges in Drug Development
Early Stage: Still learning the genetic code, unable to fully read and understand it.
Loss of Function: Most genetic changes are loss of function, hard to develop drugs to restore function.
Proposed Shift in Focus
Current Focus: Studying the sick and listing altered components.
New Idea: Study those who stay well despite having genetic risks for diseases.
Look for individuals who are genetically predisposed to diseases but show no symptoms.
Feasibility Examples
HIV and AIDS (1980s-1990s): Some individuals did not get AIDS despite high HIV levels due to protective mutations.
High Lipid Levels and Heart Disease: Research by Helen Hobbs identified protective mutations in individuals with high lipid levels who did not get heart disease.
The Resilience Project
Objective: Find individuals with genetic factors that protect against diseases.
Methodology: Systematic approach to study all childhood inherited diseases with severe symptoms and known genetic alterations.
Global Search: Include diverse populations, aiming to study one million individuals.
Technological and Collaborative Advances
Cost Reduction: Significant drop in data generation and analysis costs.
Advanced Tools: New tools in network biology and systems biology.
Collaborative Effort: Researchers and institutions willing to join the open, crowd-sourced project.
Progress and Results
Screening Key: Developed a key for decoding resilience factors.
Sample Collection: Collaboration with various institutions yielded over 500,000 samples.
Findings: Dozens of strong candidate 'unexpected heroes' identified.
Future Directions
Beta Phase Launch: Seeking prospective individuals for further study.
Public Involvement: Need public engagement and participation for success.
Long-term Goal: Extend research to adult diseases like Alzheimer's and Parkinson's.
Open-Source Approach: Encourage sharing and collaboration for broader impact.
Conclusion
Call to Action: Encouraging individuals to participate and share their genetic information.
Vision: Evolving from current resource constraints to designing preventive therapies through collective effort.