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.

Researchers describe alterations in long noncoding RNA sequences in Rett syndrome

Researchers at the Epigenetics and Cancer Biology Program at IDIBELL led by Manel Esteller, ICREA researcher and professor of genetics at the University of Barcelona, have described alterations in noncoding long chain RNA sequences in Rett syndrome.

3 May 2013

Molecular biologist hopes to learn why degenerative disorder affects specific brain cells

Dr. Santosh D'Mello, professor of molecular and cell biology at the University of Texas at Dallas, has received a federal grant for research that may shed light on why and how specific brain cells are affected by Huntington's disease, a devastating, degenerative brain disorder.

27 Mar 2013

Researchers to develop new diagnostic tools and treatments for people with rare diseases

A multi-million Euro initiative is bringing together researchers from across the world to develop new diagnostic tools and new treatments for people with rare diseases and to connect research data in this area on a global scale.

25 Jan 2013

Researchers pinpoint several inherited mutations in autism

While autism clearly runs in some families, few inherited genetic causes have been found. A major reason is that these causes are so varied that it's hard to find enough people with a given mutation to establish a clear pattern. Researchers at Boston Children's Hospital have pinpointed several inherited mutations—among the first to be identified—through an unusual approach: using whole-exome sequencing to study large Middle Eastern families with autism.

23 Jan 2013

Immune dysfunction pinpointed in developmental disorder

Children with neurodevelopmental abnormalities resulting from duplication of the methyl-CpG binding protein 2 gene also have impaired T-helper-cell 1 responses, research shows.

10 Dec 2012

Special issue of Disease Markers explores ASD genetics and biomarker development

Autism spectrum disorders (ASD) are neurodevelopmental disorders typically characterized by difficulties in social interactions and delayed or abnormal language development. Although ASD reportedly affects 1 in 88 people in the United States, to date there have been no distinctive biomarkers to diagnose the disease.

30 Nov 2012

Proposing standards and guidelines for Rett syndrome research

There is an urgent need for new drugs to treat Rett syndrome, a rare and severe neurological disease mainly affecting girls. A bottleneck in drug development for this syndrome is a lack of clarity at the level of preclinical research. Key researchers in this field now tackle this issue, proposing standards and guidelines for Rett syndrome research, in an Open Access review article published on Oct. 31, 2012 in Disease Models & Mechanisms (DMM).

1 Nov 2012

Ketamine can help improve brain function in Rett syndrome mice

A promising study out today in the prestigious Journal of Neurosciences showed that in a mouse model of Rett syndrome, researchers were able to reverse abnormalities in brain activity and improve neurological function by treating the animals with an FDA-approved anesthesia drug, ketamine.

4 Oct 2012

Two major classes of brain cells repress neural activity in specific mathematical ways

The brain has billions of neurons, arranged in complex circuits that allow us to perceive the world, control our movements and make decisions. Deciphering those circuits is critical to understanding how the brain works and what goes wrong in neurological disorders.

9 Aug 2012

Study investigates EEGs as potential diagnostic tool for autism

Widely available EEG testing can distinguish children with autism from neurotypical children as early as age 2, finds a study from Boston Children's Hospital. The study is the largest, most rigorous study to date to investigate EEGs as a potential diagnostic tool for autism, and offers hope for an earlier, more definitive test.

26 Jun 2012

Intriguing links between Snf2l gene and brain developmental disorders

Scientists at the Ottawa Hospital Research Institute (OHRI) and the University of Ottawa (uOttawa) have discovered that mice that lack a gene called Snf2l have brains that are 35 per cent larger than normal.

16 May 2012

Conventional testing underestimates Rett Syndrome patients' cognitive abilities

Researchers at Montefiore Medical Center have identified, in a pilot study published in the April edition of Pediatric Neurology, that children with Rett Syndrome, who cannot speak or use their hands to communicate and therefore were thought to be unable to understand and process information, do in fact exhibit meaningful visual search whereby they can process and prioritize information.

18 Apr 2012

Hi-C sequencing decodes 3-D structure of DNA folds in chromosomes

Chromosomes are strands of DNA that contain the blueprint of all living organisms. Humans have 23 pairs of chromosomes that instruct how genes are regulated during development of the human body. While scientists have developed an understanding of the one-dimensional structure of DNA, until today, little was known about how different parts of DNA are folded next to each other inside the nucleus.

12 Apr 2012

Paper describes results of BMT in models of Rett Syndrome

A paper published online today in Nature describes the results of using bone marrow transplant (BMT) to replace faulty immune system cells in models of Rett Syndrome. The procedure arrested many severe symptoms of the childhood disorder, including abnormal breathing and movement, and significantly extended the lifespan of Rett mouse models.

19 Mar 2012

Human diseases with Drosophila counterparts discussed at annual conference

More than two-thirds of human genes have counterparts in the well-studied fruit fly, Drosophila melanogaster, so although it may seem that humans don't have much in common with flies, the correspondence of our genetic instructions is astonishing. In fact, there are hundreds of inherited diseases in humans that have Drosophila counterparts.

12 Mar 2012

Researchers discover mechanism by which lead alters nerve cells in the brain

Exposure to lead wreaks havoc in the brain, with consequences that include lower IQ and reduced potential for learning. But the precise mechanism by which lead alters nerve cells in the brain has largely remained unknown.

1 Mar 2012

Exposure to common flame retardant may affect fertility and long-term memory

Mice genetically engineered to be susceptible to autism-like behaviors that were exposed to a common flame retardant were less fertile and their offspring were smaller, less sociable and demonstrated marked deficits in learning and long-term memory when compared with the offspring of normal unexposed mice, a study by researchers at UC Davis has found.

16 Feb 2012

OHSU research sheds light on molecules involved in cardiorespiratory control

Researchers at Oregon Health & Science University have discovered that a molecule critical to the development and plasticity of nerve cells - brain-derived neurotrophic factor -- is severely lacking in brainstem neurons in mutations leading to Rett syndrome, a neurological developmental disorder.

30 Jan 2012

Scientists identify two genes involved in major symptoms of MeCP2 duplication disorder

The anxiety and behavioral issues associated with excess MeCP2 protein result from overexpression of two genes (Crh [corticotropin-releasing hormone] and Oprm 1 [mu-opioid receptor MOR 1]), which may point the way to treating these problems in patients with too much of the protein, said Baylor of Medicine scientists in a report that appears online in the journal Nature Genetics.

8 Jan 2012

Autism Speaks announces 47 new ASD research grants

Autism Speaks, the world's largest autism science and advocacy organization, today announced the awarding of 47 new research grants totaling $13,242,279 in funding over the next three years.

22 Dec 2011