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A team found that in an animal model of Rett (mice with inactivated MECP2), most symptoms could be reversed, raising hopes for new therapies or even a cure.
Dr. Djukic, who joined the Einstein faculty in 2006, never intended to become a Rett syndrome specialist. Her clinical practice at CHAM initially focused on children with autism, epilepsy and other common neurologic disorders. A girl with Rett would come in for treatment every so often, but Dr. Djukic and her colleagues could do little except offer supportive care.
Progress against Rett syndrome has come in fits and starts. The syndrome was first described in 1966 by Austrian physician Andreas Rett. In 1999, after a 16-year search for a cause, Huda Zoghbi, M.D., of Baylor College of Medicine found that nearly all cases of Rett syndrome arise from mutations in a single gene known as methyl CpG binding protein 2, or MECP2. The next major development came in 2007, when a University of Edinburgh team found that in an animal model of Rett (mice with inactivated MECP2), most symptoms could be reversed by reactivating the MECP2 gene. This stunning turnabout was achieved by genetic manipulations that would be impossible in humans, but it raised hopes for new therapies and perhaps even a cure.
The next major development came in 2007, when a University of Edinburgh team found that in an animal model of Rett (mice with inactivated MECP2), most symptoms could be reversed by reactivating the MECP2 gene. This stunning turnabout was achieved by genetic manipulations that would be impossible in humans, but it raised hopes for new therapies and perhaps even a cure.
In 2008, Dr. Djukic established the Tri-State Rett Syndrome Center at CHAM, just the third such center in the country. “Now that there was proof of principle that these children could get better, I felt an obligation to promote research and provide better care,” she says. In just six years, the center has evolved into the nation’s largest clinical site for people with Rett syndrome, serving about 350 patients, and has spurred a variety of research projects, ranging from basic studies to clinical trials.
1 in 10,000Rett syndrome occurs in about one in every 10,000 female births worldwide. Most cases are caused by mutations to an X chromosome gene called MECP2, which synthesizes a protein that regulates genes involved in neuronal development. At about 6 to 18 months of age, girls who have been developing normally start to experience a host of symptoms that characterize Rett syndrome, including loss of speech; loss of motor abilities affecting the hands, arms and legs; seizures; and difficulties with learning, heart function, breathing, chewing, swallowing and digestion. The severity of the disabilities varies widely, depending on the underlying genetic mutations.
Rett syndrome is often misdiagnosed as autism, cerebral palsy or nonspecific developmental delay. Treatment is largely supportive, including medications for improving motor difficulties and anticonvulsants for controlling seizures. Occupational therapy can help patients develop skills for performing activities of daily living, while physical therapy and adaptive equipment can enhance mobility. Many Rett patients live into their 40s, although little is known about the potential longevity of people who have the syndrome.
