Finding cures for children's genetic diseases


A step closer to identifying underlying causes of birth defects


Researchers at Children's Medical Research Institute (CMRI) have identified the gene expression 'signatures' of a unique type of stem cell from the mouse embryo early in development, providing a deeper understanding of how various cell types and tissues arise.

This will help with determining the underlying causes of the erroneous cell differentiation that may lead to birth defects.

It will also direct research into future cell-based therapies to correct genetic diseases and other health conditions.

Professor Patrick Tam, Head of the Embryology Unit at CMRI says, "This was an all-CMRI effort involving researchers from different specialty units, including Embryology, Telomere Length Regulation, Gene Therapy and Bioinformatics."

The epiblast stem cells (EpiSCs) can be derived from mouse embryos of a wide range of developmental stages, but surprisingly, they all display similar genetic 'fingerprints' irrespective of the developmental stage that they came from.

The EpiSCs lines that the CMRI researchers investigated could be categorised based on a correlation between genetic fingerprints and predisposition to become certain cell types. This information provides a benchmark for assessing the properties of other stem cells and their potential for treating diseases.

The research paper detailing these findings will be published online on 17 October 2013 in the top journal of stem cell science, Cell Stem Cell ( )

The full paper title is 'The Transcriptional and Functional Properties of Mouse Epiblast Stem Cells Resemble the Anterior Primitive Streak'