Recap & Next Steps

Okay, so here's what we've done so far....

• You've learned how understanding a patient's genetic variation can help to precisely diagnose them.
• You've seen how understanding the specific lesion causing problems can be used to effectively customize a treatment regimen.
• You've learned about a workflow for finding and interpreting information from a free, online, U.S. government website (NCBI) - to help you understand a patient's case at the molecular level.

• • • MedGen:  find specific helpful resources about genetic conditions or those associated with specific genes 
    • ClinVar:  undestand what the current knowledge is about human genetic variants 
    • NCBI Gene:  encyclopedic information about specific genes and gene products

And next?

• You should figure out who your Pharm/Phys group is and say "Hi!"
• Try out Jeff's Practice case.
  • It is more important to be able to fill out the last section of the worksheet than to follow every little step!
  • I want you to feel comfortable finding information and being able to integrate genomic, genetic, gene, protein and structural information - to explain what is happening with a patient.  Tell a good story!
  • Do NOT spend more than an hour on this.

On Friday...

• We can review Jeff's case to make sure you "got it".
• Then you will be working in groups to help out a group of 4 boys who all need help!
• We'll explore how:
  • a cluster of similar disorders may not really be the same, after all.
  • some really varied, random-seeming disorders ma actually have a biological connection!
• And I'll show you a short-cut to quickly interpret genetic test results for clinical application.