Angelman Syndrome

 

 Angelman Syndrome is an early childhood, rare, neurodevelopmental disorder characterized by a severe cognitive impairment, absent speech, ataxia, seizures, dysmorphic facial features, sleep disturbances and inappropriate laughter. It affects approximately 1:12000 - 1:20000 live births worldwide and usually manifests in children soon after birth to 2 years. The cause of Angelman syndrome is a loss of function of the imprinted ubiquitin-protein ligase E3A (UBE3A) gene on chromosome 15q11.2-q13. The loss of function could be due to mutations within UBE3A (~11%) gene, uniparental disomy (~7%) and imprinting defects (~3%). Currently, there are no effective treatments for this disease. All existing therapeutics are focusing on alleviating seizure and sleep disturbances as well as on behavioral and physical therapy.

“Most people have never heard of Angelman syndrome (AS), but scientists believe that AS has the greatest potential for being cured when compared to other neurogenetic disorders.”