Community Foundation of New Jersey

Fundholders Focus on a Cure for Rett Syndrome

August 28, 2015

It’s likely you have never heard of Rett Syndrome, a severe neurological disorder that afflicts girls and women. But it’s top of mind for several fundholders at the Community Foundation of New Jersey; these fundholders have used their donor advised funds to make grants toward a cure for the often overlooked disease.

Rett Syndrome is less well known than other diseases—Huntington’s, ALS, and Cystic Fibrosis, to name a few—that affect similar numbers of people. But about 500 families in New Jersey and more than 16,000 across the country, have daughters who suffer with this terrible disease.

Rett, which has an occurrence of about 1 in 10,000 female births, is not hereditary in most cases, nor is it caused by environmental factors or maternal or paternal age at conception. Its cause is a random genetic mutation on the X chromosome, and it afflicts all socioeconomic groups, races, and nationalities in equal proportions.

Why is Rett less well known than other diseases? It may be because the mutated gene that causes Rett was discovered quite recently, in 1999, so there hasn’t been a lot of time to develop awareness. It may also be because girls and women with Rett lose the ability to talk when they are very young, so they can’t speak or advocate for themselves in the way that those who suffer from most other diseases can.

In most cases, girls with Rett develop normally for the first twelve or eighteen months of life, many learning their first words and taking their first steps. Then a regression occurs, sometimes over a period of just days or weeks, during which little girls lose their ability to speak and walk. A blood test can confirm the mutation on the specific gene. Beyond losing speech and mobility, the symptoms of Rett Syndrome are anguishing—seizures, repetitive motions that render hands and legs useless, scoliosis, and severe breathing and swallowing difficulties. While most of those afflicted live to adulthood, they are transformed at a very young age to a state in which they need 24-hour-a-day care. No effective treatments or cures exist…yet.

Funding for research on Rett Syndrome also lags behind other diseases. There is irony in this because Rett research is poised, more so than most other disease-specific research, to result in treatments or potentially even a cure in the not-too-distant future. There are two main reasons that scientists can assert this. First, the mutated gene that causes Rett is known. This sets Rett apart from other disorders such as autism and schizophrenia, which have no identified gene for scientists to focus their efforts on. Secondly, and remarkably, it has been shown in mouse models that Rett is a reversible condition.

There is much work ahead for scientists to translate a reversal in mice to a reversal in girls and women. But the fact that Rett Syndrome’s cause is known and that it is theoretically reversible makes the next stage of the research uniquely promising and exciting. To get to that next stage, the research needs an influx of funding. It’s an opportunity for philanthropists to be involved in research that could make a major difference in peoples’ lives, as well as to be part of important advances in genetics and neuroscience that could have an impact on other diseases.

An organization called the Rett Syndrome Research Trust (RSRT) is leading the charge to get the research to this next stage where it can have an impact on the lives of girls and women struggling with this disease.

To learn more or to help, go to or contact Tim Freeman, RSRT’s Program Director, at 609-309-5676 or