Partners in the fight against Rett syndrome

Monica Coenraad, the mother of a daughter with Rett syndrome, co-founded two organizations in pursuit of a treatment for her daughter's condition. In 1999, Monica co-founded the Rett Syndrome

Research Foundation (which in 2007 merged with The International Rett Syndrome Association to became the International Rett Syndrome Foundation), and in 2008 Monica helped launch the Rett Syndrome Research Trust for which she now serves as Executive Director.

Monica has been widely acknowledged as a significant force in stimulating the recent surge of research around Rett syndrome. She has reached out to scientists to encourage them to make their mice available to other researchers by donating them to the Jackson Laboratory (JAX) and she has reached out to JAX to convey the needs of the Rett research groups so that we can respond with the necessary models.

A number of allelic variants have recently been engineered, and JAX is working with clinicians at St. Joseph's Hospital in Phoenix to identify important mutations in humans to engineer in mice. In addition, our model development group is engineering a new model of Rett seen in a high-functioning patient, considered to have "atypical Rett syndrome." By modeling human patients with less severe symptoms in mice, we hope to gain insight into therapies.

What causes Rett syndrome?

Nearly all cases of Rett syndrome are caused by mutations in the methyl CpG binding protein 2, or MECP2 gene. The MECP2 protein is needed for brain development and also functions to regulate the expression of other genes products. In patients with Rett syndrome, the MECP2 protein does not function properly and can cause other genes to be abnormally expressed.

What is Rett syndrome?

Rett Syndrome is a neurodevelopmental disorder characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures and intellectual disability. Rett syndrome is the most disabling of the autism spectrum disorders, affecting girls almost exclusively.

Girls with Rett syndrome often exhibit autistic-like behaviors in the early stages. Then, gradually, mental and physical symptoms appear. As the syndrome progresses, the child loses purposeful use of her hands and the ability to speak. The inability to perform motor functions is disabling feature of Rett along with cognitive disabilities and breathing difficulties.

The condition affects about 1 out of 10,000 children. Life expectancies vary, and death is often related to seizure, aspiration pneumonia, malnutrition and accidents. There is no cure for Rett syndrome. Treatment for the disorder is focused on the management of symptoms of seizures and breathing irregularities. Some children may require special equipment and aids such as braces to arrest scoliosis, splints to modify hand movements, and nutritional programs.