Smith lab Developmental Biology Laboratory
: Deciphering the mechanisms of developmental disorders
Introduction
This five-year study is funded by a Strategic Award from the Wellcome Trust, and involves researchers from the Crick, the Sanger Institute, King's College London, the Babraham Institute, the Institute of Child Health, and the Universities of Edinburgh and Oxford.
Figure 1: A mutation in the gene encoding Cysteine and Glycine-Rich Protein 1 causes the embryo to develop without a tongue (to within the red circle on the left). Wild-type embryo (+/+) to the left; homozygous mutant (Csrp-/-) to the right.
It uses high-resolution 3D imaging and transcriptomics to characterise the developmental abnormalities that occur in mouse embryos after the deletion of individual genes. The resulting database will be available for the wider research community to catalyse new discoveries in developmental biology.
The work is important because one in 40 children in Europe are born with a genetic defect that can affect organs such as the heart, lungs or kidneys, or the formation of the spine and brain. Some defects are so severe they result in miscarriage or stillbirth. Studying these defective genes in mice, and uncovering the underlying molecular mechanisms, will lead to the development of better genetic screening strategies and diagnosis, and might result in new therapies.
This work will make extensive use of Wellcome Trust Sanger Institute's Mouse Genetics Programme, which is creating mouse strains with targeted disruptions in each of the 20 000 genes in the mouse genome as part of the International Knockout Mouse Consortium.
