Stormy Chamberlain, PhD, Assistant Director for University of Connecticut’s Graduate Program in Genetics and Developmental Biology, describes how her lab intends to develop a short hairpin RNA (shRNA)-based gene therapy option for patients with Angelman syndrome.

Angelman syndrome is a rare neurodevelopmental disorder characterized by delayed development and cognitive disability. The most common cause of the syndrome is the loss of function in the UBE3A gene which is critical for nerve communication.

As Dr. Chamberlain explains, many of the treatment options for Angelman syndrome currently being explored would require repeated injections or spinal taps. With the goal to develop a treatment that was permanent or semi-permanent, her lab explored the use of shRNA. shRNAs are artificial RNA molecules that are able to match up with other RNA in the cell and snip them. In the case of Angelman syndrome, Dr. Chamberlain hopes that a treatment can be developed in which shRNA is programmed to activate the normally silent paternal copy of the UBE3A gene. Furthermore, Dr. Chamberlain points out that, unlike other treatment options for Angelman syndrome, shRNA can be packaged into a gene therapy vector which would allow the shRNA to be repeatedly made without the need for continual injections. As such, if a gene therapy using shRNA was developed, it could eradicate the need for repeated painful treatments.

This shRNA treatment option will be explored further in a recently announced collaboration between University of Connecticut and Ovid Therapeutics. 

For more information on Angelman syndrome and other rare neurological disorders, visit checkrare.com/diseases/neurology.

 

 

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