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Tag: Rett syndrome

October 2014

Web of genes may hold clues for autism treatments

by  /  20 October 2014

Many of the genes that have emerged as the strongest autism candidates have turned out to regulate the expression of hundreds, if not thousands, of other genes. Within these networks, scientists are homing in on pathways that underlie autism.

September 2014

Rousing silenced X chromosome may treat Rett syndrome

by  /  29 September 2014

Drugs that activate the silent copy of the X chromosome in women may be able to undo the damage from mutations in genes located there. The study, published 2 September in Proceedings of the National Academy of Sciences, offers hope for treating Rett syndrome and other disorders linked to the chromosome.


Scientists take steps to clarify Rett syndrome’s diversity

by  /  2 September 2014

Rett syndrome, a neurological disorder that shares some features with autism, can be severe and debilitating. But some people with the disorder can regain social skills years after diagnosis.

August 2014

Signaling imbalance skews sensory responses in autism mice

by  /  11 August 2014

Mice modeling autism have trouble integrating different kinds of sensory information such as sight, sound and touch. A study published 31 July in Neuron reports that an imbalance between signals that calm neurons and those that excite them leads to these sensory problems.

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July 2014
Opinion / Viewpoint

Rett outcome is improving with time

by  /  25 July 2014

By treating the medical complications that accompany Rett syndrome, women with the disorder are living longer than ever before, says Alan Percy. 

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June 2014
Opinion / Viewpoint

How to evaluate new medications for autism

by  /  10 June 2014

There are no available medications for treating autism’s core symptoms, but there are several candidates in clinical trials. Jeremy Veenstra-VanderWeele describes the factors researchers must take into account when developing drugs for the disorder.


Genetics: Gene linked to adult regression implicated in Rett

by  /  3 June 2014

A teenage girl with Rett syndrome has a mutation in WFR45, a gene that is mutated in people who abruptly lose motor and mental skills in adulthood, according to a study published 13 March in the Journal of Human Genetics.

May 2014

Molecular mechanisms: Rett protein forms vary in mouse brain

by  /  27 May 2014

The protein underlying Rett syndrome exists in two different forms that differ in their distribution throughout the brain, reports a study published 3 March in PLoS One.


Genetics: Extra copy of Rett gene blocks neuron growth

by  /  20 May 2014

Having one too many copies of MeCP2, the Rett syndrome gene, may block the growth of neuronal branches by interfering with the production of small pieces of RNA, according to a study published 10 March in Developmental Cell.


Neurons that inhibit brain signals are key in Rett syndrome

by  /  5 May 2014

Deleting MeCP2 from a subset of neurons that mediate inhibitory signals recapitulates many of the symptoms of Rett syndrome in mice. Conversely, expressing the gene only in that subset, but not in the rest of the brain, protects the mice from some of those same symptoms. The results were published last week in Nature Neuroscience.