Rett Syndrome News and Research

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Rett syndrome is a neurological and developmental disorder that mostly occurs in females. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities. For instance, they stop talking even though they used to say certain words. They lose their ability to walk properly. They stop using their hands to do things and often develop stereotyped hand movements, such as wringing, clapping, or patting their hands. Rett syndrome is considered one of the autism spectrum disorders. Most cases of Rett syndrome are caused by a mutation on the MECP2 gene, which is found on the X chromosome.

IRSF announces new grants for research into Rett syndrome

The International Rett Syndrome Foundation (IRSF) announced today that it is awarding over $1.5M to support 18 new grants designed to study a variety of diverse topics from basic science and disease pathology to developing treatments and outcome measures for Rett syndrome.

20 Dec 2011

Einstein, Montefiore receive NINDS grant to establish clinical site for NeuroNEXT

In a development that could pave the way for treatment for rare neurological diseases and clues to more common ones, physician-scientists at Albert Einstein College of Medicine of Yeshiva University and Montefiore Medical Center, the University Hospital for Einstein, have secured a grant to establish a clinical site for the Network for Excellence in Neuroscience Clinical Trials.

2 Dec 2011

Established human embryonic cell lines vary from newly derived stem cell lines

Established human embryonic cell lines, including those approved for federal research funding under former President George W. Bush, are different than newly derived human embryonic stem cell lines, according to a study by UCLA stem cell researchers.

2 Dec 2011

Rare syndrome's workings could help explain how brain wiring goes awry

Potential clues to how autism miswires the brain are emerging from a study of a rare, purely genetic form of the disorders that affects fewer than 20 people worldwide. Using cutting-edge "disease-in a-dish" technology, researchers funded by the National Institutes of Health have grown patients' skin cells into neurons to discover what goes wrong in the brain in Timothy Syndrome.

28 Nov 2011

First report on how patterns of 5-hmC's distribution change in mouse brain during development

In 2009, the DNA alphabet expanded. Scientists discovered that an extra letter or "sixth nucleotide" was surprisingly abundant in DNA from stem cells and brain cells.

31 Oct 2011

Researchers identify unusual genomic architecture linked with very severe forms of disease

When cells divide normally, DNA gets copied perfectly and distributed among the daughter cells with an even hand. Occasionally though, DNA breaks during division and is rearranged, resulting in duplications or deletions of important parts of the blueprint.

3 Oct 2011

Researchers to develop diagnostic test for folate receptor autoantibody

Researchers at SUNY Downstate Medical Center have received a $50,000 grant from the SUNY Research Foundation Technology Accelerator Fund to develop a diagnostic test for the folate receptor autoantibody. This autoantibody is associated with neural tube defects, subfertility, cerebral folate deficiency in infants and autism spectrum disorders.

26 Aug 2011

IRSF announces new Rett syndrome translational research awards

The International Rett Syndrome Foundation (IRSF) announced today that it is awarding over $650,000 to support eight cutting-edge projects that aim to accelerate translational research to develop treatments for Rett syndrome.

19 Aug 2011

Glia plays key role in preventing progression of Rett Syndrome symptoms

A paper published online today in Nature reveals that glia play a key role in preventing the progression of the most prominent Rett Syndrome symptoms displayed by mouse models of the disease: lethality, irregular breathing and apneas, hypoactivity and decreased dendritic complexity.

30 Jun 2011

'Switching off' critical disease causing gene can reestablish Rett syndrome in adult animals

An IRSF funded study published today in the journal Science has shown that the childhood disorder Rett syndrome, can be reestablished in adult animals by "switching off" a critical disease causing gene in healthy adult animals.

3 Jun 2011

Scientists to develop new techniques for autism detection and treatment

To parents, learning that a child has been diagnosed with autism can be overwhelming. Children with the disorder can seem trapped in a world of their own, without friends or even a conception of friendship. Many prefer to play alone. Some lose the ability to speak more than a few words.

1 Apr 2011

Researchers begin placebo-controlled trial to test drug treatment for Rett syndrome

Researchers at Children's Hospital Boston have begun a randomized, placebo-controlled trial to test a potential drug treatment for Rett syndrome, the leading known genetic cause of autism in girls.

16 Dec 2010

Researchers develop human cell-based model of Rett syndrome

A groundbreaking study published Friday in the leading scientific journal, Cell, revealed that a team of investigators had successfully generated nerve cells using skin cells from four individuals with Rett syndrome. The study, funded in part by IRSF, was led by Dr. Alysson Muotri at the University of California, San Diego--a leading researcher in the stem cell field.

16 Nov 2010

New findings shed light on biology of neuropsychiatric diseases

The biggest surprise to me was that we could rescue the autistic phenotype [in the human cells] to something close to normal, said Alysson Muotri of the University of California San Diego.

12 Nov 2010

Researchers study Rett neurons in a Petri dish

A collaborative effort between researchers at the Salk Institute for Biological Studies and the University of California, San Diego, successfully used human induced pluripotent stem (iPS) cells derived from patients with Rett syndrome to replicate autism in the lab and study the molecular pathogenesis of the disease.

12 Nov 2010

Scientists create functional neurons to study ASD development

Using induced pluripotent stem cells from patients with Rett syndrome, scientists at the University of California, San Diego School of Medicine have created functional neurons that provide the first human cellular model for studying the development of autism spectrum disorder (ASD) and could be used as a tool for drug screening, diagnosis and personalized treatment.

12 Nov 2010

Research unveils epigenetic function of MECP2 gene tht cause neuropsychiatric disorders

The laboratory of Huda Zoghbi, where the discovery that mutations in the gene MECP2 cause the severe childhood neurological disorder Rett Syndrome was made, has taken yet another step toward unraveling the complex epigenetic functions of this gene, implicated also in cases of autism, bipolar disease and childhood onset schizophrenia. The November 11 issue of Nature reports that removing MECP2 from a small group of neurons that typically make the inhibitory neurotransmitter, GABA, recapitulates many symptoms of Rett as well as numerous neuropsychiatric disorders.

12 Nov 2010

Autism Consortium begins new therapeutic initiative on Translational Medicine

The Autism Consortium, an innovative Boston area collaboration of researchers, clinicians, funders and families dedicated to catalyzing research and enhancing clinical care for autism spectrum disorders (ASDs), announced that it will begin a new initiative on Translational Medicine and Autism Therapeutics. The new focus was introduced at the Consortium's fifth annual symposium held October 26th, 2010, at Harvard Medical School in Boston.

2 Nov 2010

Pepsi Refresh grant helps in launching Rett syndrome drug development program

The International Rett Syndrome Foundation (IRSF) believes that accelerating the pace of meritorious research, supporting families, and raising awareness are the minimum effort necessary to successfully search for treatments and a cure for one of the most devastating neurological diseases to affect young girls. On October 1, IRSF became the recipient of a $250,000 grant from the Pepsi Refresh contest that was officially confirmed later in the month.

29 Oct 2010

Eye-gaze technology opens world of communication for Rett Syndrome children

Special eye-gaze technology now being used in the Department of Neurology at The Children's Hospital at Montefiore (CHAM) is revealing the hidden, inner world of children who have Rett Syndrome, a rare and severe autism spectrum disorder that primarily affects little girls. It is a neurological disease in which mobility and autonomic functions are severely impaired, seizures and orthopedic problems are common, and the children lose functional hand use and the ability to speak.

26 Oct 2010