The NIHR funding was initially used to support the completion of high throughput Sanger sequencing on a cohort of families with X linked intellectual disability. We have screened >700 genes from the X chromosome in the research project and have identified 12 novel genes that cause disease. The NIHR BRC funding has also directly contributed to the translation of this research to providing a diagnostic service to the individuals who have a pathogenic mutation and the provision of testing for the extended family.
In 2009-10, the NIHR funding has supported the completion of the detailed analysis of the X chromosome with high resolution array technology and this led to resolution of the genetic defects in a further 13% of the families investigated. This has led to a diagnostic test for a further 25 families and have defined one further new gene and 3 further candidate genes for intellectual disability. More recently we have used NIHR BRC funding to develop non-invasive prenatal testing for X linked diseases with a view to translation of this method to clinical practice. We anticipate that we will deliver this test safely and reliably within the year.