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The Pathway to Genomic Medicine

Author(s): Richard A. Gibbs, PhD

Progress in Knowledge Discovery: 1990 Mutation Detection by PCR

Edited Transcript from “The Pathway to Genomic Medicine,” Richard Gibbs, PhD*
The first question is actually pretty easy to answer. We’re really doing pretty well. This is my favorite slide from 20 years ago, when we did the first PCR direct analysis of a gene and found heterozygous mutations that caused a direct disease. It was a nice illustration of the first application of multiplex polymerase chain reaction, in combination with fluorescent sequencing, to find all the gene’s structural mutations and to say that the rest of the gene wasn’t affected, because we’d looked at every coding base in it.

* Notes in this slide presentation are adapted from the transcript of “The Pathway to Genomic Medicine,” a presentation by Richard Gibbs, PhD, given in August 2007, as part of Baylor College of Medicine’s Department of Medicine Grand Rounds Human Genetics Symposium.