Description:
Identify Patients and Carriers of CdLS
Market Need
The Cornelia de Lange syndrome (CdLS) is a dominantly inherited multisystem developmental disorder that includes growth and cognitive retardation, upper extremity abnormalities, gastroesophageal dysfunction, cardiac ophthalmologic genitourinary anomalies, hirsutism and characteristic facial features. Many patients also demonstrate autistic behavior, including self-injurious tendencies. Prevalence is estimated to be as high as 1 in 10,000. Diagnosis and counseling for CdLS has been complicated by phenotypic variability and lack of a definitive diagnostic marker.
Technology Overview
Dr. Ian Krantz and his team discovered IDN3 as the causal gene responsible for CdLS, allowing a molecular diagnostic marker to be available to identify patients and carriers of this disease. Mutational analysis of the IDN3 gene will allow confirmation of diagnosis, identification of carriers amongst relatives of an affected individual and allow for genetic counseling about recurrence risks and prenatal diagnosis.
Advantages
• Only genetic, diagnostic test to identify CdLS patients and carriers
Application
• This diagnostic test can be used by genetic counseling services for prenatal diagnosis and confirmation of diagnosis of affected patients
Stage of Development: In vivo clinical proof-of-concept in 20 individuals.