Linking development and disease

Putting developmental diseases on the map

Linking development and disease

Most people use a map to understand the physical world around them. Now, genetic researchers have a map of their own to understand how developmental diseases work at the genetic level.  

In a recent study, UW graduate student Junyue Cao and Dr. Malte Spielmann from the Max Planck Institute profiled approximately 2 million cells from 61 mice embryos between 9 and 14 days old, resulting in a digital representation of how each cell type develops and its gene expression changes.

When a gene is between 9 and 14 days old, most cells that underlie major developmental diseases can be studied, according to Cao. With further application, Cao believes his study can be used as a reference to help other researchers understand how genetic diseases like autism, breast cancer, and parkinson’s disease develop in humans.

“If we can use this to comprehensively categorize the different cell states and their composition in disease or [the] aging process, then potentially, we can fully understand how they are generated in development and why there are different diseases and aging,” Cao said.

Cao and his team collected the largest single-cell dataset, Mouse Organogenesis Cell Atlas (MOCA), which consists of distinctions between individual cells. This dataset has recently been published and in this publication, the team created a genetic map of organ development.



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