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.

Potential new target for treatment of Rett syndrome

A research collaboration between Australia and Israel has identified a genetic variation that influences the severity of symptoms in Rett syndrome.

20 Apr 2009

Understanding mental illness through gene-environment interactions

Biological Psychiatry, published by Elsevier, is very pleased to present a special section of its February 1st issue devoted to fundamental new insights into epigenetics, a field of research devoted to understanding how the environment can produce long-lasting or even heritable changes in gene function without altering the DNA sequence.

17 Mar 2009

Significant Rett syndrome discovery

A paper published online today in Nature Neuroscience reveals the presence of methyl CpG binding protein 2 (MeCP2) in glia. MeCP2 is a protein associated with a variety of neurological disorders, including Rett Syndrome, the most physically disabling of the autism spectrum disorders.

23 Feb 2009

Discovery of potential treatment for Rett syndrome

A molecule that promotes brain development could serve as a possible treatment for Rett syndrome, the most common form of autism in girls, according to researchers at MIT's Picower Institute for Learning and Memory and the Whitehead Institute for Biomedical Research.

9 Feb 2009

Breakthrough in cellular analysis

Like skilled assassins, many diseases seem to know exactly what types of cells to attack.

16 Nov 2008

Breakthrough in cell-type analysis offers new ways to study development and disease

Like skilled assassins, many diseases seem to know exactly what types of cells to attack. While decimating one cadre of cells, diseases will inexplicably spare a seemingly identical group of neighbors. What makes cells vulnerable or not depends largely on the kinds and amounts of proteins they produce - their 'translational profile,' in the lingo of molecular biology. For this reason, scientists have struggled to parse the subtle molecular differences among the hundreds of specialized cell types that are tangled together in tissues like the brain.

13 Nov 2008

People with autism less influenced by gut instincts

People with autism-related disorders are less likely to make irrational decisions, and are less influenced by gut instincts, according to research funded by the Wellcome Trust. The study adds to the growing body of research implicating altered emotional processing in autism.

16 Oct 2008

Anti-reflux surgery - research may lead to changes in treatment recommendations

Researchers at Wake Forest University Baptist Medical Center have found that the reflux and swallowing problems that are common symptoms in patients with Rett syndrome and other neurological impairments, may be caused by a different mechanism than they are in healthy individuals. The finding leaves researchers to wonder if these patients truly benefit from anti-reflux surgery commonly performed in these children.

4 Aug 2008

Neural stem cell development may be linked to Autism

In a breakthrough scientific study published today in the Proceedings of the National Academy of Sciences, scientists at the Burnham Institute for Medical Research have shown that neural stem cell development may be linked to Autism.

30 Jun 2008

Rett syndrome gene found to be full of surprises

A study funded by the National Institutes of Health (NIH) has transformed scientists' understanding of Rett syndrome, a genetic disorder that causes autistic behavior and other disabling symptoms. Until now, scientists thought that the gene behind Rett syndrome was an "off" switch, or repressor, for other genes. But the new study, published today in Science, shows that it is an "on" switch for a startlingly large number of genes.

29 May 2008

New genetic finding on Rett syndrome

The first comprehensive analysis of the clinical effects of genetic mutations involved in Rett syndrome will enable affected families to receive a more accurate indication of their child's prognosis.

12 Mar 2008

$Girls and women with Rett syndrome have higher fracture risk$

Girls and women with Rett syndrome have higher fracture risk

Researchers at Perth's Telethon Institute for Child Health Research have found that girls and young women with Rett syndrome are nearly four times more likely to suffer a fracture.

10 Mar 2008

New approach to genetic diagnosis in autism

A practical, stepwise approach to diagnosing genetic causes of autism and related disorders is proposed in the January issue of Genetics in Medicine, official journal of the American College of Medical Genetics (ACMG), published by Lippincott Williams & Wilkins.

7 Feb 2008

Genetic animal model of autism

By introducing a gene mutation in mice, investigators have created what they believe to be the first accurate model of autism not associated with a broader neuropsychiatric syndrome, according to research presented at the American College of Neuropsychopharmacology annual meeting.

10 Dec 2007

Brain needs perfection in synapse number

Like Goldilocks, the brain seeks proportions that are just right. The proper number of synapses or communication between nerve cells, determined early in life, is crucial to having a healthy brain that can learn and retain information.

4 Oct 2007

New understanding of genetics behind Noonan Syndrome

Researchers have discovered that the genetic malfunction that causes a form of mental retardation called Noonan Syndrome (NS) produces an imbalance in the genesis of two types of cells in the developing embryonic brain.

19 Apr 2007

Rett syndrome can also strike males

The common thinking in the past had been that Rett syndrome only affects girls.

8 Aug 2006

Researchers pinpoint autism's genetic roots

By deleting a gene in certain parts of the brain, researchers at UT Southwestern Medical Center have created mice that show deficits in social interaction that are reminiscent of humans with autism spectrum disorders.

3 May 2006

Rett disease progression altered by changing expression of gene

Scientists from the Whitehead Institute for Biomedical Research, Brandeis University and Massachusetts Institute of Technology report in the journal Neuron that increasing levels of brain derived neurotrophic factor (BDNF) alleviates symptoms in a mouse model of the childhood disorder Rett Syndrome.

13 Feb 2006

Newly discovered role of MECP2 gene in Rett Syndrome

Huda Zoghbi, of Baylor College of Medicine and the Howard Hughes Medical Institute and Juan Young, also of Baylor and colleagues report in the online Early Edition of the Proceedings of the National Academy of Science, posted the week of October 17, 2005, that the Rett Syndrome gene, MECP2, regulates RNA splicing.

18 Oct 2005