When our late daughter, Cammy, was diagnosed with Rett syndrome in 2011, our family entered a world we knew very little about. Like so many families receiving a rare disease diagnosis, we had endless questions, and it was difficult to find answers. Over time, the International Rett…
Discussion
A girl in Sweden who was diagnosed with Rett syndrome at age 7 despite testing negative for standard gene mutations was found to have an “alternative genetic cause” for the rare disease: a change in the DNA sequence of the GABBR2 gene. The researchers say this child’s case shows…
Discussion
Last in a series. Read part one. In part one of this tale, Barry Ross Rinehart told us how his casual offer to help a stranger with slides for a talk about Rett syndrome led him to direct a full-length documentary, “Silent Angels: The Rett Syndrome…
Discussion
Levels of the genetic instructions for a brain receptor protein were reduced in people with Rett syndrome and in a mouse model of the disease, but activating the receptor produced little to no benefit in mice, a U.S. study found. Researchers found lower levels…
Rett syndrome is a rare genetic disorder that mostly affects females. The disease is characterized by normal early development, followed by slowed growth and a loss of motor control. Learn more about the disease here.
Most cases are caused by a mutation in the MECP2 gene. Scientists have identified mutations in CDKL5 and FOXG1 genes in those who have atypical or congenital Rett. Learn more about what causes the disease here.
Rett syndrome is associated with problems in cognitive, sensory, emotional, and motor skills, and across the nervous system that controls involuntary (or autonomic) functions. Learn more about the symptoms of the disease here.
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