In conversation with Prof. James R. Lupski, Department of Molecular and Human Genetics, Baylor College of Medicine
On the trail of Genomic Pioneers-James Lupski
The inaugural edition of our ‘On the Trail of Genomic Pioneers’ interview series features Prof. James R. Lupski, Department of Molecular and Human Genetics, Baylor College of Medicine. His research focuses on using human genetics, genomics, and molecular biological techniques to elucidate biological mechanisms for diseases. This interview gives fascinating insights into genomic disorders and discusses his research in this area.
Snippet from Prof. Lupski’s interview
“We do believe that CNV may be responsible for a lot more disease than currently believed or anticipated. The focus to date in approaches to human genetic traits has been, whether by virtue of the Mendelian model or a hypothesis generating search through genome-wide association studies (GWAS), the focus has been on base pair changes as being responsible for the variation leading to the genetic cause or susceptibility to disease traits. However, if we look just in the past year or two alone we have witnessed that when researchers open their minds to CNV as a mutational mechanism, and analyze their data with that thought in mind, one can find CNV being responsible for conditions such as autism and schizophrenia for which we previously have had a difficult time identifying specific genetic etiologies”
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