Development of Diagnostics and Therapeutics for Cornelia de Lange Syndrome
Background: Cornelia de Lange Syndrome (CdLS) is a moderately common multisystem birth defects disorder that poses severe medical and social challenges for affected children and their families. Diagnosis of Cornelia de Lange Syndrome (CdLS) is based on clinical signs, including abnormal upper limbs, characteristic facial features, cardiac defects, cognitive retardation, and hearing loss. The syndrome varies widely in severity, and mildly affected cases may be difficult to diagnose. As many as half of all CdLS may fall into this latter category. In addition, there is currently no procedure available for the prenatal diagnosis of CdLS
CdLS was recently shown to be caused by mutations in a single copy of the NIPBL gene, The vast majority are new mutations in the children of normal parents, and such mutations have been found at locations throughout the very large NIPBL transcript (~9.8 kb). In addition, mutations in non-protein-coding parts of the NIPBL gene are thought to account for about half of CdLS cases. Because a very large amount of DNA needs to be screened to find the mutation in every new case of CdLS, direct mutation screening is likely to be impractical as a diagnostic approach for this syndrome, except in those cases where clinical suspicion is already very high. Thus, there remains a significant need for rapid, inexpensive diagnostic aids for both pre- and postnatal diagnosis of this syndrome.
Technology: The product of the NIPBL gene is a global regulator of DNA interactions that control the expression of many classes of genes. It is believed that the abnormalities of CdLS arise because levels and sites of expression of many genes change when NIPBL levels are low. University of California, Irvine researchers have developed a mouse model of CdLS, based on heterozygous mutation of the NIPBL gene, and are using transcriptional profiling of mutant mice to identify those genes and gene products that are aberrantly regulated. Application: The products of some of these genes, when measured in biological fluids such as blood, urine or amniotic fluid, are likely to provide excellent markers for diagnosis of CdLS, as well as for grading severity. These markers may also be employed as therapeutic targets, and as biomarkers for use in the evaluation of potential therapies for CdLS.
This technology is available for licensing, research sponsorship, and/or collaborative research projects.
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