Deciphering Developmental Disorders.

Thousands of babies are born each year in the UK with developmental disorders. Diagnosis has hitherto been restricted to a small number of recognisable syndromes supplemented by microscopy of chromosomes for gross genetic changes. Research has shown that DNA microarray technology and sequencing can identify submicroscopic genetic errors allowing diagnoses to be made for patients where previously this was impossible. However, translation into routine clinical practice is hampered by limited, inconsistent and low-resolution application of these technologies and a general inability to link genomic structural changes to phenotype. As a consequence, clinical diagnosis is still impossible except for a small number of cases. We propose to collect an unparalleled set of high-resolution genomic and phenotypic data on sufficient patients and parents to: 1. develop a comprehensive knowledge base and bioinformatic tools for clinical interpretation of genetic findings 2. design cheap, efficient diagnostic assays for postnatal and prenatal diagnosis. Successful commercialisation of these products would enable genetic testing to be offered to all patients with developmental disorders in the UK, rather than the current minority. This project is designed to transform clinical genetic practice for developmental disorders by providing timely, cost-effective and accurate diagnosis for many patients who are currently undiagnosable.