Update on Medical Genomics

It has been fun to watch advancements in the basic science of molecular biology reach into the world of clinical medicine.  As an Internist involved in practical clinical practice, at times the articles and information on the basic science of  molecular medicine seemed removed from practice.  But now, new (to me) principles are starting to show real practical promise.  My simple/basic approach to begin to understand these principles are divided into 3 basic headings.  The first is induced pluripotency stem cell research.  This will allow cellular platforms to be built from  predifferentiated cellular precursors and removes the need for embryonic components.  The second is the emerging technology of the CRISPR-Cas9 tool for editing genes, either clipping or replacing bad ones or putting in new ones.  The concept ex-vivo has been demonstrated, in vivo the classic example is Gleevac and CML.  Work is ongoing to make in vivo applications more workable.  The third is the diagnostic use of genes in identifying disease and disease risk (BRCA, HFE, JAK2 et al.)

This article attached is a summary on the CRISPR-Cas9 tool.


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