Deciphering the Mechanisms of Developmental Disorders (DMDD).

Scientists are systematically creating thousands of mouse embryos with single genes disabled, then scanning them with high-resolution CT and 3D imaging to catalogue every structural defect that appears. This matters because thousands of children are born each year with developmental disorders of unknown genetic cause. While human genome sequencing can identify suspicious mutations, proving that a particular gene actually causes a birth defect requires experimental evidence. The Sanger Institute’s Mouse Genetics Project is generating knockout mice for every gene in the mouse genome, and this project—Deciphering the Mechanisms of Developmental Disorders (DMDD)—will focus on the 250-plus genes that prove essential for normal development. By combining detailed anatomical imaging with gene expression analysis at precise developmental stages, the team will map the regulatory networks that go wrong when a gene is missing. The project’s primary output is a single public database, linked to the International Mouse Phenotyping Consortium, where clinicians and developmental biologists can look up what happens when a specific mouse gene is disabled. If a child carries a mutation in the human version of that gene, the database provides immediate evidence of what that mutation likely does. This is fundamental science with a direct pipeline to clinical diagnosis—it turns a list of candidate disease genes into a catalogue of real biological consequences.