Waking up on Saturday morning to watch Tom and Jerry was one of my dearest childhood memories. I enjoyed the cartoon in part because I found the little mouse hilarious, but mostly because I felt that I was not much different than him.
As I approached adulthood, I brushed off my connection with Jerry as unrealistic and with the character as “just a cartoon.” That is, until now.
Jerry — well, mice in general — are helping scientists understand human genes and could guide human precision medicine and the study of rare diseases. Many mouse genes have counterparts in the human genome, so understanding these fundamental genes could highlight specific human genes to study.
ٺƵ researchers with the generate and study “knockout” mutations in mice, in which a specific gene is turned off or “knocked out.” This gives them insight into how a similar gene in humans may contribute to disease when its activity is altered.
The ٺƵ program is a part of the , which is working to characterize knockouts of thousands of mouse genes.
Recently, the consortium announced that of more than 1,700 gene knockouts studied so far, nearly one-third are essential for life. These include 410 genes without which the mice die as embryos.
“The mouse data could help prioritize genes to study through the national ,” said Kent Lloyd, professor of surgery at the ٺƵ School of Medicine, and director of the Mouse Biology Program and the National Institutes of Health-funded . “This begins to inform what may be happening in people.” In this way, comparative medicine makes more health advances possible.
The IMPC aims to discover new functions for the roughly 20,000 genes that mice share with humans. Many of these genes may guide the basic understanding of human disease, including cardiovascular defects, diabetes and spina bifida.
What sets this study apart, besides the sheer amount of new data, is the use of high-throughput imaging with automated analysis. This equipment enables researchers to discover exactly when and why a knocked-out gene caused the embryo to die. This could have been missed using older technology.
The international research team includes investigators from ٺƵ, the Perelman School of Medicine at the University of Pennsylvania, The Jackson Laboratory, the Baylor College of Medicine, the University of Toronto, and the MRC Harwell Institute, United Kingdom.
The consortium is making all of their data and images available to other scientists through an and data download features.
It seems that Jerry does, in fact, share things in common with humans. Maybe the childhood me better understood that we are not so different from other species after all.
Sarah Clark '16 interned with the .