The Human Genome Project provided a ‘parts-list’ of genes, about 18,000 in number. Now, researchers are studying what it means to be missing a part. In an analysis of the genomes of 10,000 research participants, Mass General’s Dr. Sekar Kathiresan and his research team found 1,300 genes which were broken in at least one participant. For example, several individuals were missing a working copy of the APOC3 gene and as a result, these individuals had lower blood levels of fat and were protected from heart attack.
Such examples help us understand the function of a gene in humans and also point to new drug targets. This study sets the stage for an ambitious ‘Human Knockout Project’, a systematic effort to understand gene function by identifying and characterizing humans who naturally lack a gene.
Interested in learning more on this study? Check out this post from the NIH Director’s Blog. For more information about Dr. Kathiresan’s work with Mass General’s Center for Genomic Medicine, visit their website.