Rett Syndrome: A Time To Talk, A Time To Plan

By Kathy Hunter, Founder and President, International Rett Syndrome Association

What do Julia Roberts, the Oscar-winning actress, and Huda Zoghbi, the preeminent molecular geneticist from Baylor College of Medicine, have in common with the International Rett Syndrome Association (IRSA)? They are united in passionately trying to cure this devastating neurodevelopmental disorder.

What Is Rett Syndrome?
Rett Syndrome (RS) affects approximately 1 in 10,000 to 15,000 live female births. The majority of cases are caused by a spontaneous genetic mutation of the MECP2 gene, located on the X-chromosome. Zoghbi, a Howard Hughes Medical Institute Investigator, and her collaborators discovered the mutation in the late summer of 1999, with funding from the National Institutes of Health (NIH) and the IRSA. MECP2 encodes the methyl-CpG-binding protein 2, which is thought to be involved in transcriptional control. Girls with RS appear to develop normally during early infancy, but usually enter a period of regression beginning their second year. They then develop some autistic traits and lose acquired speech and purposeful hand use, which is replaced by stereotyped hand movements such as handwringing or handwashing. About half develop seizures and breathing abnormalities and most develop scoliosis.

One of the unexpected results of Rett research has been the discovery that MECP2 underlies a host of disorders never suspected to be related to RS. MECP2 mutations have been identified in male children with schizophrenia, bipolar disorders, and some forms of autism as well as those with severe mental retardation associated with movement disorders. Some women with very mild learning disabilities have also been found to carry MECP2 mutations. Understanding Rett syndrome could advance our understanding of all these diseases.

A Personal Crusade
Eighteen years ago after her daughter, Stacie, was the first child diagnosed with RS in the United States, Kathy Hunter founded the IRSA. Since then, this nonprofit organization has grown into a powerful entity with a three-pronged mission: research, public awareness and family support. IRSA now manages a mailing list of over 15,000.

On May 9th of this year, the IRSA went to Congress with Julia Roberts to request that legislators increase funding for RS and related disorders at the NIH during the next fiscal funding year. Since 1986, IRSA’s lobbying efforts have led to nearly $35 million in funds to study Rett syndrome. Ms. Roberts testified because her young friend, Abigail Brodsky, who had Rett syndrome, passed away last summer at 10 years of age from RS complications.

Zoghbi also has had a very personal commitment to solving the puzzle of RS. Her introduction to the illness came in 1983 when she met an engaging little girl who wrung her hands constantly and had stopped talking and walking. Fascinated by this little girl and her unique neurological picture, Zoghbi became hooked on finding the cause, and hopefully a cure, for RS. It took 16 long years to find the cause, and the ramifications of this discovery have been enormous. “We just hope finding a treatment won’t take quite so long,” says Zoghbi. “But there’s an important lesson here. The benefits of basic research are many and they come in ways that no one can predict. We need NIH support to keep making discoveries that will benefit people, now or 20 years from now.”

A Time To Talk, A Time To Plan
On the heels of such a spectacular year, including a successful advocacy day with IRSA and Roberts in Congress and Zoghbi’s new mouse model, the International Rett Syndrome Association is pleased to host a reception next month in Orlando at the SFN meeting. It will be a wonderful time and opportunity for newcomers to Rett research to become up close and personal with IRSA. For more information, call IRSA at 1-800-818-RETT or visit the Web site at www.rettsyndrome.org.