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MeCP2 goes global -- redefining the function of the Rett syndrome protein
A paper published online today in Molecular Cell proposes that Methyl CpG binding protein 2 (MeCP2) impacts the entire genome in neurons, rather than acting as a regulator of specific genes. Mutations in MeCP2 cause the autism spectrum disorder Rett syndrome as well as some cases of neuropsychiatric problems including autism, schizophrenia and learning disabilities. (2010-02-25)

Abnormal neuron activity manifests as parental neglect
The malleability of the brain decreases with age, but scientists have identified certain life experiences that allow the adult brain to rewire. In female mice, hearing the distress cries of mouse pups presents a rewiring opportunity. Whether the mouse learns to respond to the cries depends on agene, Mecp2, that influences neurons in the auditory cortex called parvalbumin. (2020-01-08)

New data uncover common molecular pathways between Rett syndrome, autism and schizophrenia
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 Nov. 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. (2010-11-10)

IRSF awards $1.5 million for novel basic and translational research programs
The International Rett Syndrome Foundation (IRSF) broadened and intensified its efforts to produce treatments for Rett syndrome and related disorders, announcing today that it is awarding another $1.5 million to support 18 new grants at leading global research institutions. In 2012, IRSF invested nearly $4 million in high-quality, peer-reviewed research grants that give promise to advancing treatment strategies of Rett syndrome and other MECP2 disorders. (2013-01-14)

New studies contradict earlier findings on Rett syndrome
Scientists at the University of Iowa, Baylor College of Medicine, Fred Hutchinson Cancer Research Center, and the University Medical Center Gottingen, in Germany, show that bone marrow transplant does not rescue mouse models of Rett syndrome, a severe neurological disease that affects very young girls. The findings contradict seemingly promising results published in 2012, which initiated a clinical trial for human patients. (2015-05-20)

Genetic editing milestone in mouse model of Rett Syndrome
A genomic error that causes Rett Syndrome, a serious lifelong neurological disorder, can be corrected in the brains of mice by rewriting the genetic instructions carried by the RNA. The new research, published July 14 in the journal Cell Reports, shows that RNA editing may repair the underlying cause of Rett Syndrome in a mouse model. The technology recoded enough RNA to restore half of the normal protein in three different kinds of neurons in the Rett mouse. (2020-07-15)

First pre-clinical gene therapy study to reverse Rett symptoms
The concept behind gene therapy is simple: Deliver a healthy gene to compensate for one that is mutated. New research published today in the Journal of Neuroscience suggests this approach may eventually be a feasible option to treat Rett Syndrome, the most disabling of the autism spectrum disorders. Gail Mandel, Ph.D., a Howard Hughes Investigator at Oregon Health and Sciences University, led the study. (2013-08-20)

Brain and heart link may explain sudden death in Rett
In a study published in the journal Science Translational Medicine, BCM researchers and colleagues found that heart problems that occur in nearly 20 percent of children with Rett syndrome, a neurological disorder, originate because the Rett gene is lost in nerve cells -- not in heart muscle cells. (2011-12-14)

MECP2 duplication syndrome is reversible
Research led by Huda Zoghbi, M.D., at Baylor College of Medicine and HHMI and published today in the journal Nature reveals that the MECP2 Duplication Syndrome is reversible. Importantly the study paves the way for treating duplication patients with an antisense oligonucleotide strategy. (2015-11-25)

Mouse version of an autism spectrum disorder improves when diet includes a synthetic oil
When young mice with the rodent equivalent of a rare autism spectrum disorder, called Rett syndrome, were fed a diet supplemented with the synthetic oil triheptanoin, they lived longer than mice on regular diets. Importantly, their physical and behavioral symptoms were also less severe after being on the diet, according to results of new research from The Johns Hopkins University. (2014-10-09)

Length matters
Mutations in the MECP2 gene are the cause of the devastating childhood neurological disorder Rett Syndrome. Despite intense efforts spanning several decades the precise function of MECP2 has been difficult to pin down. Research primarily funded by the Rett Syndrome Research Trust and NINDS, and published today in Nature reveals important information that could lead to new treatment approaches. The study, led by Michael Greenberg, Ph.D., Chairman of the Department of Neurobiology at Harvard University, shows that MECP2 dampens the expression of long genes. (2015-03-11)

Researchers 'grow Rett syndrome' in a Petri dish
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. (2010-11-15)

The Rett Syndrome protein surrenders some of its secrets
Discovery of a mutant gene responsible for a disease is a milestone, but for most conditions, it may be only a first step towards a treatment or cure. Understanding Rett Syndrome, an autism spectrum disorder, is further complicated by the fact that the implicated gene controls a suite of other genes. Two papers, published in today's Nature Neuroscience and Nature, reveal key steps in how mutations in the gene for methyl CpG-binding protein cause the condition. (2013-06-16)

The Rett gene -- a rogue activator
In 1999, when Dr. Huda Zoghbi and her Baylor College of Medicine colleagues identified a mutation of the gene MeCP2 as the culprit in Rett syndrome, a neurodevelopmental disorder, the discovery was only the prelude to understanding a symphony of neurological missteps. (2008-05-29)

Research provides important insight on the brain-body connection
A study conducted by University of Arkansas researchers reveals that neurons in the motor cortex exhibit an unexpected division of labor, a finding that could help scientists understand how the brain controls the body and provide insight on certain neurological disorders. (2019-04-18)

The Rett Syndrome Research Trust launches operations
The Rett Syndrome Research Trust, a newly established nonprofit organization, is pleased to announce the launch of our operations and Web site. In the wake of last year's dramatic pre-clinical reversal of Rett symptoms, the Trust has been formed to pursue the next steps toward treatment and cures for Rett Syndrome and the increasing range of MECP2 spectrum disorders. Our short-term goal is to bring novel therapeutics addressing the underlying MECP2 pathology to clinical trials within five years. (2008-09-25)

Research team investigates abnormal neuron activity in Rett syndrome
Research by Billy Lau, a postdoctoral researcher working with Assistant Professor Keerthi Krishnan at the University of Tennessee, Knoxville, examines the time during which an adult female mouse first learns to recognize and respond to the distress cries of young mouse pups as an opportunity for the brain to rewire and learn again. The findings hint at potential therapeutic strategies for Rett syndrome, a rare neurodevelopmental disorder. (2020-01-29) invests $65,000 to support additional sites for natural history study
Last year, the NIH National Center for Advancing Translational Science Rare Diseases Clinical Research Network funded the development of a consortium made up of 11 sites to study the natural history of Rett syndrome, MECP2 Duplication, CDKL5 disorder, and FOXG1 syndrome under their strong belief that collaborative activities are necessary to advance rare disease research. As a private rare disease foundation, knows that the benefits of partnering with other organizations dedicated to MECP2 and related disorders research are immeasurable. (2015-12-22)

Inhibitory neurons key to understanding neuropsychiatric disorders
In 1999, Baylor College of Medicine researcher Dr. Huda Zoghbi, and her colleagues identified mutations in one of these genes called MECP2 as the culprit in a devastating neurological disorder called Rett syndrome. In new research in mice published in the current issue of the journal Nature, Zoghbi and her colleagues demonstrate that the loss of the protein MeCP2 in a special group of inhibitory nerve cells in the brain reproduces nearly all Rett syndrome features. (2010-11-10)

Researchers find differences in swallowing mechanism of Rett syndrome patients
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. (2008-08-04)

Breakthrough discovery in gene causing severe nerve conditions
Researchers have made a breakthrough genetic discovery into the cause of a spectrum of severe neurological conditions. (2020-10-08)

Rett syndrome drug shows promise in clinical trial
MIT neuroscientists report more detail on how the disease arises. (2014-06-23)

NIH's ORDR-NCATS RDCRN & NICHD awards U54 cooperative agreement for natural history study
National Institute of Health announced awards to expand the Office of Rare Diseases Research part of the National Center for Advancing Translational Sciences collaborative Rare Diseases Clinical Research Network. Through the network, physician scientists at 22 consortia will work with 98 patient advocacy groups to advance clinical research and investigate new treatments for patients with rare diseases. The collaborations are made possible by $29 million in fiscal 2014 funding from NIH. (2014-10-28)

Insights into neurons that cause symptoms of Rett syndrome could guide new therapy search
Two studies in mice from Baylor College of Medicine, Texas, reveal new insights into neurons that mediate symptoms typical of the postnatal neurological disorder Rett syndrome. (2016-06-28)

Research breakthrough hailed on the anniversary of gene discovery
In a study published today in the journal Proceedings of the National Academy of Sciences, an international team of researchers based in the US and UK revealed that they were able to halt the potentially lethal, breath holding episodes associated with the neurological disease Rett syndrome. (2010-10-04)

Why does brain development diverge from normal in autism spectrum disorders?
Rett syndrome, a neurodevelopmental disorder on the autism spectrum, is marked by relatively normal development in infancy followed by a loss of loss of cognitive, social and language skills starting at 12 to 18 months of age. What hasn't been clear is why children start out developing normally, only to become progressively abnormal. New research from Children's Hospital Boston, published in the April 14 issue of Neuron, helps unravel what's going on. (2011-04-13)

Small-molecule therapeutic boosts spatial memory and motor function in Rett syndrome mice
Rett syndrome is a neurological disorder affecting learning and development, caused by a mutation in the MECP2 gene triggering decreased levels of brain-derived neurotrophic factor (BDNF). Previous research has shown that treatment with a small-molecule BDNF mimetic, LM22A-4, can lead to improvements in respiratory problems associated with the disease. Now, new research reveals that LM22A-4 may also improve spatial memory and motor skill defects in a Rett syndrome mouse model. (2017-07-05)

The Rett Syndrome Research Foundation commits $1.3 million for 2003 research awards
The Rett Syndrome Research Foundation (RSRF) has awarded $1.3 million to fund 13 cutting edge projects seeking improved understanding of this debilitating neurological disorder diagnosed almost exclusively in little girls. (2003-08-04)

Research becomes a reality for Rett syndrome through new funding
The International Rett Syndrome Foundation announced today that it will award an additional $1.5M in research grants, bringing the 2010 total to $2.15 million for innovative basic and translational research that moves treatments for Rett syndrome a step closer to the clinic. IRSF is the world's largest private source of Rett syndrome research funding and with the addition of these awards the Foundation has cumulatively provided $23 million for Rett syndrome research. (2010-10-01)

Statins suppress rett syndrome symptoms in mice
Statins, a class of cholesterol-lowering drugs found in millions of medicine cabinets, may help treat Rett Syndrome, according to a study published today in Nature Genetics. The Rett Syndrome Research Trust funded this work with generous support from the Rett Syndrome Research Trust UK and Rett Syndrome Research & Treatment Foundation. (2013-07-28)

Researchers pinpoint epicenter of brain's predictive ability
In recent years, scientists have discovered that the human brain works on predictions, contrary to the previously accepted theory that it reacts to outside sensations. Now, in a paper published in Nature, University Distinguished Professor Lisa Feldman Barrett has reported finding the epicenter of those predictions. (2015-06-02)

RSRF-funded study leads to breakthrough for Rett Syndrome research
A collaborative study between the laboratories of Michael Greenberg of Children's Hospital Boston and Rudolf Jaenisch of the Whitehead Institute of Biomedical Research has resulted in a significant breakthrough. The investigators report in the October 31, 2003 issue of the prestigious journal Science, that the (2003-10-30)

Stem cell researchers reactivate 'back-up genes' in the lab
Vincent Pasque and his team at KU Leuven have unravelled parts of a mechanism that may one day help to treat Rett syndrome and other genetic disorders linked to the X chromosome. (2019-09-12)

In mice, experimental drug treatment for Rett syndrome suggests the disorder is reversible
A team at CSHL has developed a strikingly new approach for treating Rett syndrome, a devastating autism spectrum disorder. In a paper appearing today they demonstrate that treatment with small-molecule drug candidates significantly extends lifespan in male mice that model Rett and ameliorates several behavioral symptoms in females. (2015-07-27)

Rett syndrome mobilizes jumping genes in the brain
With few exceptions, jumping genes-restless bits of DNA that can move freely about the genome-are forced to stay put. In patients with Rett syndrome, however, a mutation in the MeCP2 gene mobilizes so-called L1 retrotransposons in brain cells, reshuffling their genomes and possibly contributing to the symptoms of the disease when they find their way into active genes, report researchers at the Salk Institute for Biological Studies. (2010-11-17)

Rett Syndrome Research Trust advisor makes significant discovery
A paper published online today in Nature Neuroscience reveals the presence of methyl CpG binding protein 2 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. The researchers show that MeCP2-deficient astrocytes, a subset of glia, stunt the growth of neighboring neurons. Remarkably, these neurons can recover when exposed to normal glia in culture. This research suggests a novel approach to treating Rett Syndrome. (2009-02-22)

Researchers develop mouse model of Rett syndrome
By studying gene mutations in patients with the complex set of behavioral and neurological symptoms that accompany Rett syndrome, Howard Hughes Medical Institute investigator Huda Zoghbi and her colleagues at Baylor College of Medicine have designed a mouse model that faithfully recapitulates the disease down to its distinctive hand-wringing behavior. (2002-07-18)

Autism Consortium members publish in PNAS: Mechanism, treatment for Rett syndrome -- top cause autism girls
Several Autism Consortium members from MIT and the Whitehead Institute published a paper in the Proceedings of the National Academy of Science that demonstrates for the first time a mechanism for Rett syndrome, the leading cause of autism in girls, and a therapeutic that could be directly applicable to humans. As a result, a clinical trial in humans is in development. (2009-02-09)

Modeling autism in a 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. (2010-11-11)

Gene mutations responsible for Rett syndrome in females present sporadically in males
Gene mutations that are responsible for the majority (70 to 80 percent) of cases of Rett syndrome (RTT) in females are not always lethal in males prior to birth, refuting previous assumptions, and can occur sporadically in infant males without a family history of the disorder. A study published in the journal Neurology reports four sporadic occurrences of MECP2 gene mutations in infant males with progressive encephalopathy. (2006-07-13)

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