Rett Syndrome is a spectrum disorder with a broad range of symptom severity. Some girls can run, have some use of their hands and can speak in short sentences while others cannot even sit or manage to hold their head up. One reason for this variation is the child's own unique genetic make-up - in other words, variations in other genes that impact the severity of the Rett mutation. Identification of modifier genes has therefore been a critical component of RSRT's research program as the modifiers may provide alternate pathways to target.
This hypothesis has now been supported in a major study that could lead to treatments for girls and women with Rett Syndrome. Today the journal Nature Genetics publishes data on the first reported modifier, called Sqle, an enzyme involved in the cholesterol pathway.
The research was undertaken by Monica Justice, PhD, of Baylor College of Medicine, with a $1.5 million investment from RSRT. Dr. Justice tested statins (cholesterol-lowering drugs) on Rett mice models with encouraging results. A human clinical trial is now being planned.
RSRT is committed to seeing this project through to completion as many more modifiers, and therefore druggable pathways, are likely to be found. We thank all of our generous supporters and parent organizations who make this important work possible, in particular our funding partners, Rett Syndrome Research Trust UK and the Rett Syndrome Research & Treatment Foundation.
Below are some resources to help you understand today's announcement.