Rett syndrome might limit 8-year-old Laurel Cooper’s ability to speak and do every day tasks, but it doesn’t hold back her spunky, sassy attitude, reports University of Wisconsin-Madison News. She will laugh at her sister when she gets in trouble and communicate her feelings in some way, even if it might be difficult. Her personality radiates beyond her 3 foot, 7 inch and 35 pound stature.
Rett syndrome is a debilitating neurological disease that causes severe physical disabilities, with no found cure. To read more about Rett syndrome, click here.
Rett syndrome remains one of the rare diseases with limited research and studies conducted, yet thanks to Qiang Chang, an associate professor at Waisman Center (in the medical genetics/neurological department) progress is being made to change that. Having met the Cooper’s family and understand what their lifestyle is like having to care for Laurel, he approached this project as more than an intellectual endeavor, but a way to help this family.
It is known that a mutation in the MECP2 gene causes the physiological and physical changes. The gene is very actively involved in different types of cells all through out the body. Depending on the mutation, a variety of symptoms can occur, some being: sleep deprivation, scoliosis, anxiety, gastrointestinal issues and more.
Chang and his team recently found a connection between MECP and nerve cells when they conducted trials on mice. When these gene mutations occurred, they noticed a disconnect in communication from nerve cells and the brain. From this discovery, Chang’s team went on to develop a stem-cell model to determine the underlying proponents that enforced the disease, as well as testing potential treatments. A recent study suggests that a protein (CREB) can contribute to the disease, and might just be the target to alleviate patients.
Chang will continue to develop a potential treatment, or even cure, for Rett Syndrome based off the current studies and research data they’ve gathered. He hopes to find answers very soon to help the Cooper family, and anyone else who’s experiencing symptoms of Rett syndrome.
