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James F. Gusella, PhD  Center for Human Genetic Research - Massachusetts General Hospital Forward-looking Research: The Potential of New Genetic Technologies
Effective ND Therapies This is the ultimate mission of Norrie  Disease investigators/clinicians ,[object Object],[object Object],[object Object],Potential types of therapeutic intervention
Molecular  Target Screen chemical compounds Optimize selected compounds Preclinical testing- model systems Phase 1 Clinical  Trial Phase 2 Clinical  Trial Phase 3 Clinical  Trial FDA approved drug Traditional Pharmaceutical Development  Basic Research Applied Research Clinical Trial Research Flexibility, variety of strategies
Therapeutic development It requires 3 different kinds of research: Basic/Discovery research Applied/translational research Clinical trial research
Why not just guess at a drug?
Why not just guess at a target or test all of them?
Norrie Patients and Families Identification of Norrie disease  gene How do norrin  mutations cause disease symptoms? Diagnostics,  Management  and Therapy Norrie Disease Genetic  Research  Cycle Description of  disorder
Norrin protein
Norrin
 
How do mutations cause  disease symptoms Why? To identify a specific  molecular target or pathway  against which an effective  drug can be developed How? Basic Research
 
 
 
 
How to define the effects of the Norrie disease mutation?  ,[object Object],[object Object],[object Object]
 
Genetic models with inbred mice are identical clones of each other 50 72 80 92 111 150
 
Manual DNA sequencing:   from the era of Norrie gene discovery  Only a few hundred thousand bases per person per year
Semi-automated DNA sequencing:   Led to sequencing of the entire human genome for ~3 billion dollars
Automated “next-generation DNA sequencing:   Currently can provide full genome sequence for $5,000-$20,000 Expected to drop to less than $1,000 with 1-2 years Realistic to sequence whole genomes and for other applications to more rapidly identify factors that modify disease – identify targets and pathways for therapeutic intervention that are already validated in humans or human cells
Despite appearances,  mice are not people
Stem cells and iPS cell
Pluripotent stem cells can be made from adult skin cells
 
Advances in applied research ,[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object],Empowering the Research Pipeline
 
Thank you

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Forward-looking Research: The Potential of New Genetic Technologies

  • 1. James F. Gusella, PhD Center for Human Genetic Research - Massachusetts General Hospital Forward-looking Research: The Potential of New Genetic Technologies
  • 2.
  • 3. Molecular Target Screen chemical compounds Optimize selected compounds Preclinical testing- model systems Phase 1 Clinical Trial Phase 2 Clinical Trial Phase 3 Clinical Trial FDA approved drug Traditional Pharmaceutical Development Basic Research Applied Research Clinical Trial Research Flexibility, variety of strategies
  • 4. Therapeutic development It requires 3 different kinds of research: Basic/Discovery research Applied/translational research Clinical trial research
  • 5. Why not just guess at a drug?
  • 6. Why not just guess at a target or test all of them?
  • 7. Norrie Patients and Families Identification of Norrie disease gene How do norrin mutations cause disease symptoms? Diagnostics, Management and Therapy Norrie Disease Genetic Research Cycle Description of disorder
  • 10.  
  • 11. How do mutations cause disease symptoms Why? To identify a specific molecular target or pathway against which an effective drug can be developed How? Basic Research
  • 12.  
  • 13.  
  • 14.  
  • 15.  
  • 16.
  • 17.  
  • 18. Genetic models with inbred mice are identical clones of each other 50 72 80 92 111 150
  • 19.  
  • 20. Manual DNA sequencing: from the era of Norrie gene discovery Only a few hundred thousand bases per person per year
  • 21. Semi-automated DNA sequencing: Led to sequencing of the entire human genome for ~3 billion dollars
  • 22. Automated “next-generation DNA sequencing: Currently can provide full genome sequence for $5,000-$20,000 Expected to drop to less than $1,000 with 1-2 years Realistic to sequence whole genomes and for other applications to more rapidly identify factors that modify disease – identify targets and pathways for therapeutic intervention that are already validated in humans or human cells
  • 23. Despite appearances, mice are not people
  • 24. Stem cells and iPS cell
  • 25. Pluripotent stem cells can be made from adult skin cells
  • 26.  
  • 27.
  • 28.
  • 29.