OPPORTUNITY

The overall understanding of the molecular etiologies of intellectual disability (ID) and developmental delay (DD) is increasing with next-generation sequencing technologies identifying genetic variants in patients with these disorders. However, detailed analyses conclusively confirming variants, as well as the underlying molecular mechanisms explaining these diseases, are lacking. In the united states, the prevalence of ID is about 12 per 1000 children. Thus, effective screening and diagnosis is essential to develop novel medications and ensure availability of appropriate services and support.

BREAKTHROUGH IN DIAGNOSIS OF ID/DD

Researchers at the University of South Alabama have identified that de novo heterozygous loss-of-function (LoF) mutations in the human SON gene causes distinctive syndrome characterized by ID/DD, malformations of the cerebral cortex, epilepsy, vision problems, musculoskeletal abnormalities and congenital malformations. Here, we invented the method to detect the lost-of-function of SON as a novel cause of this syndrome. We describe methods to determine the expression level of SON by quantitative polymerase chain reaction (qPCR) using the primer sets and less than 5 ml of the patient’s blood. This method can be used to determine the level of SON expression in patient’s blood cells, which can be a diagnostic tool for human ID/DD syndrome. Effective diagnosis is essential in order to determine eligibility to receive various services and support. Ultimately, this method can drive treatment development and selection to optimally treat each patient.

COMPETITIVE ADVANTAGES

•  Effectively screen and diagnose ID and DD syndrome

•  Rapid results with minimal sample required

•  Inexpensive

INTELLECTUAL PROPERTY STATUS

Patent Filed

Download a PDF version of the description