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Rett Syndrome Current Events, Rett Syndrome News Articles.
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Drug improves brain performance in Rett syndrome mice
A brain penetrant drug -- a small-molecule mimetic of BDNF, or brain derived neurotrophic factor -- is able to improve brain performance in Rett syndrome mice -- specifically synaptic plasticity in the hippocampus and object location memory. The hippocampus is involved in learning and memory. The drug also increased the distance mice traveled in an open field test, a measure of general locomotor activity, to normal levels. (2017-07-27)

Insight into cause of rare disorder may aid quest for treatments
New findings about the causes of a rare genetic disorder that affects mainly boys, known as MeCP2 duplication syndrome, may inform the development of treatments for the condition. (2018-12-12)

Mapping the neuron-behavior link in Rett Syndrome
A link between certain behaviors and the lack of the protein associated with Rett Syndrome -- a devastating autism spectrum disorder -- demonstrates the importance of MeCP2 (the protein) and reveals never-before recognized functions associated with aggression and obesity, said researchers at Baylor College of Medicine in a report in the current issue of the journal Neuron. (2008-09-24)

A role for glia in the progression of Rett syndrome
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. The discovery, funded in part by the Rett Syndrome Research Trust was led by Gail Mandel, Ph.D., an investigator of the Howard Hughes Medical Institute at Oregon Health and Science University. (2011-06-29)

New route to therapy for Rett syndrome?
While current treatments for Rett syndrome aim only at alleviating symptoms -- including drugs to control seizures or aid motor coordination or breathing -- a new study by Rudolf Jaenisch and colleagues raises the possibility of therapies targeting the root cause of the disease. They reported their discoveries in an article in the February 2, 2006, issue of Neuron. (2006-02-01)

New study reveals Rett syndrome can strike males
A new study has found that the genetic flaw responsible for Rett syndrome can strike males, even where there isn't a family history of the rare brain disorder. (2006-08-08)

Researchers identify a new form of disease gene associated with Rett syndrome
Scientists at The Hospital for Sick Children (Sick Kids), the Centre for Addiction and Mental Health (CAMH) and the University of Toronto (U of T) have identified an alternate form of the disease gene and protein for the neurodevelopmental condition Rett syndrome. This discovery is being incorporated into a new molecular test that will aid not only in the diagnosis of Rett syndrome, but also for other developmental disabilities. (2004-03-22)

Mouse model of Rett Syndrome displays reduced cortical activity
Sacha Nelson of Brandeis University in Waltham, MA and Rudolf Jaenisch of the Whitehead Institute of Biomedical Research in Cambridge, MA and their colleagues report online today in the Proceedings of the National Academy of Sciences Early Edition that spontaneous neuronal activity is reduced in the cortex of a knockout mouse model for the childhood neurodevelopmental disorder, Rett Syndrome. The Rett Syndrome Research Foundation (RSRF) and the McKnight Foundation funded this project. (2005-08-23)

Rett syndrome genetic variants now available for advance testing, diagnosis & research
Through collaboration between the Centers for Disease Control and Prevention (CDC) and members of the clinical-laboratory and non-profit-research communities, 35 DNA samples containing many common RS genetic variants have now been characterized and made publicly available, eliminating a major stumbling-block for investigators and opening the possibility of earlier, more accurate diagnosis of Rett syndrome, reports The Journal of Molecular Diagnostics. (2014-02-07)

Study suggests possible treatment for neurological disorder Rett syndrome
Injecting the small protein insulin-like growth factor-1 into the bloodstream reduces Rett syndrome symptoms in mice, including lethargy, breathing and heart rhythm irregularities, reduced brain size, and stalled nerve cell development. Rett syndrome is an inherited neurological disease that affects one out of 10,000 girls born. Although some symptoms can be mediated with prescription drugs, the disease does not have a cure or treatment. (2009-02-09)

Study offers new insight into Rett Syndrome
Rett Syndrome is a major cause of mental retardation in girls. Although researchers have identified the protein involved in the disease, its exact role remains a mystery. Now, a group of researchers from Children's Hospital Boston and Whitehead Institute of Biomedical Research have identified the protein's function, a discovery the scientists say could be the first significant advance in Rett Syndrome research in years. (2003-10-30)

NICHD funded researchers discover gene for Rett syndrome
Researchers at the Howard Hughes Medical Institute at Baylor College of Medicine in Houston and Stanford University have discovered the gene for Rett syndrome, a heartbreaking disorder which gradually robs healthy infant girls of their language, mental functioning, and ability to interact with others. The finding has immediate implications for both the development of a test to diagnose the disorder before birth, as well as new strategies to prevent the debilitating effects of the disease. (1999-09-30)

Scientists uncover possible therapeutic targets for rare autism spectrum disorder
Researchers have uncovered 30 genes that could, one day, serve as therapeutic targets to reverse Rett syndrome, a rare neurological disorder that affects only girls and is a severe form of an autism spectrum disorder. (2017-01-30)

IRSF announces 2013 awards and implements new Translational Program
The International Rett Syndrome Foundation announces today 10 new research grants at leading global research institutions, a new Translational Research Program, and additional funding for current human clinical trials. (2014-02-24)

IRSF lauds record turn-out for annual Rett Syndrome Symposium
IRSF's 11th Annual Rett syndrome Symposium held June 27-29 in Leesburg, Va., brought together leading scientists and researchers in the fields of neurobiology from around the globe who are attempting to demystify Rett syndrome. (2010-07-01)

Study: RNA repair shows promise in reversing mutations underlying a neurological disorder
Scientists successfully edited RNA in a living animal in such a way that the repaired RNA then corrected a mutation in a protein that gives rise to a debilitating neurological disorder in people known as Rett syndrome. The new study targeted and repaired the MeCP2 protein across a variety of cell types, a scientific first. (2020-07-14)

Settings standards for research into Rett syndrome
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. (2012-10-31)

International Rett Syndrome Foundation chief science officer receives prestigious military awards
The International Rett Syndrome Foundation, the world's largest and most comprehensive not-for-profit organization that funds novel research for treatments and a cure for Rett syndrome, has announced that Steven G. Kaminsky, Ph.D., received two incredibly prestigious awards at the 2013 Annual Family Conference in Midway, Utah, this past June. (2013-08-07)

WA team uses baby tooth to solve death mystery
A team of Perth scientists have used a keepsake baby tooth to help a Queensland couple solve the mystery of their 7-year-old daughter's death - 14 years after she died. (2005-10-31)

Rett syndrome gene dysfunction redefined
Whitehead Institute researchers have discovered that the protein product of the gene MECP2, which is mutated in about 95 percent of Rett syndrome patients, is a global activator of neuronal gene expression. Mutations in the protein can cause decreased gene transcription, reduced protein synthesis, and severe defects in the AKT/mTOR signaling pathway. This novel understanding of MECP2 and its role in protein production may lead to new therapies for this genetic neurodevelopmental disease. Currently, no cure or disease-modifying therapy exists. (2013-10-03)

Drug reverses abnormal 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. Rett syndrome is among the most severe autism-related disorders, affecting about one in 10,000 female births per year, with no effective treatments available. (2012-10-03)

Adult brain requires MeCP2 for proper functioning
A paper published online today in Science provides evidence that the Methyl-CpG-Binding Protein 2 (MeCP2) is required throughout life to maintain healthy brain function. The findings are reported from the Baylor College of Medicine lab of Huda Zoghbi, HHMI investigator and Director of the Jan and Dan Duncan Neurological Research Institute. (2011-06-02)

Surprising contributor to Rett syndrome identified
The immune system is designed to protect us from disease. But what if it was malfunctioning? Would it make a disease worse? That appears to be the case with Rett syndrome, a neurodevelopmental disorder, and possibly in other neurological disorders as well. (2015-04-21)

Brain derived neurotrophic factor alleviates disease symptoms in a mouse model of Rett Syndrome
Scientists from the Whitehead Institute for Biomedical Research, Brandeis University and Massachusetts Institute of Technology report in the February 2 issue of the journal Neuron that increasing levels of brain derived neurotrophic factor (BDNF) alleviates symptoms in a mouse model of the childhood disorder Rett Syndrome. (2006-02-01)

Bone marrow transplant arrests symptoms in model of Rett syndrome
A paper published today in Nature describes the results of using bone marrow transplant 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 extended the lifespan of Rett mouse models. Exploring the function of microglia deficient in the Rett protein principal investigator Jonathan Kipnis. at the University of Virginia uncovered a completely novel approach to this devastating neurological syndrome. (2012-03-18)

IRSF receives $1 million matching gift
IRSF announced a major fundraising initiative titled (2009-10-26)

Reversal of symptoms in an autism spectrum disorder
The Rett Syndrome Research Foundation announces results of a landmark study reversing the symptoms of Rett Syndrome in a genetic mouse model. The findings, by Adrian Bird, Ph.D., of the University of Edinburgh and Chairman of the RSRF Scientific Advisory Board, appear online in Science Express on February 8, 2007. Rett Syndrome is a severe childhood neurological disease that is the most physically disabling of the autism spectrum disorders. The experiments were funded in part by the Rett Syndrome Research Foundation. (2007-02-08)

Researchers link early stem cell mutation to autism
In a breakthrough scientific study published today in the PNAS, scientists at the Burnham Institute for Medical Research have shown that neural stem cell development may be linked to Autism. The study demonstrated that mice lacking the myocyte enhancer factor 2C protein in neural stem cells had smaller brains, fewer nerve cells and showed behaviors similar to those seen in humans with a form of autism known as Rett syndrome. (2008-06-30)

NIH researchers find that Rett syndrome gene is full of surprises
A study funded by the National Institutes of Health 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 (2008-05-29)

Rett Syndrome research gets 'SMART' with Pepsi Challenge funding
On Oct. 1, IRSF became the recipient of a $250,000 grant from the Pepsi Refresh contest, a highly-competitive, online grant program to benefit non-profit organizations, which will be used to fund the (2010-10-28)

IRSF awards over $1.5 million for basic and translational research for Rett syndrome
The International Rett Syndrome Foundation announced today that it is awarding over $1.5 million 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. IRSF is the world's largest private source of funding for biomedical and clinical Rett syndrome research with the cumulative total of research spending of over $26 million since 1998. (2011-12-19)

Pupil dilation and heart rate, analyzed by AI, may help spot autism early
Autism and other neurodevelopmental disorders often aren't diagnosed until a child is a few years of age, when behavioral interventions and speech/occupational therapy become less effective. But new research this week in PNAS suggests that two simple, quantifiable measures -- spontaneous fluctuations in pupil dilation or heart rate -- could enable much earlier diagnosis of Rett syndrome and possibly other disorders with autism-like features. (2019-07-24)

New research implicates immune system in Rett syndrome
New research by investigators at the University of Massachusetts Medical School suggests the immune system plays an unsuspected and surprising role in the progression of Rett syndrome, a severe neurological disorder affecting children. (2015-05-11)

Developmental disease is recreated in an adult model
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 (2011-06-02)

IRSF announces translational research award funding to test potential therapeutics for Rett syndrome
The International Rett Syndrome Foundation announced that it will commit $446,000 to fund a large translational research program to test potential therapeutics for Rett Syndrome in mouse models. IRSF's Advanced Neurotherapeutic Grant of Excellence (ANGEL) mechanism provides funds for translational research. IRSF is the world's largest private source of Rett syndrome research funding, supporting nearly $21M in research programs to date. This is the first ANGEL Grant supported by IRSF in 2010. (2010-01-27) announces new 2014 grants, investing over $3.1 million to accelerate research
The International Rett Syndrome Foundation -- now doing business as -- announces today that twelve new grants were added to their research portfolio for a $1.2 million investment, bringing the total 2014 research spend over $3.1 million. is the leading private funder of Rett research, with more than $35 million invested to date. (2014-12-23)

Clinical trial for Rett syndrome launched
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. The drug, mecasermin, a synthetic form of insulin-like growth factor-1 (IGF-1), is already FDA-approved for children with short stature due to IGF-1 deficiency. (2010-12-16)

Rett gene regulates alternative splicing
The gene responsible for Rett syndrome, a devastating neurological disease found mostly in girls, not only silences some genes but in combination with another also regulates alternative splicing, crucial to the formation of proteins said Baylor College of Medicine researchers in a report appearing online today in the Proceedings of the National Academy of Sciences. (2005-10-17)

Scientists find impaired chromatin structure formation & imprinted gene involvement in Rett Syndrome
A research team led by Terumi Kohwi-Shigematsu of the Life Sciences Division of Lawrence Berkeley National Laboratory has identified a gene, DLX5, that may play a role in the pathology of Rett Syndrome, a devastating neurological disorder diagnosed almost exclusively in girls. Their findings are reported in the January issue of Nature Genetics and currently available online. The team also found that Rett Syndrome is associated with impaired three-dimensional chromatin folding. (2004-12-20)

Proteins -- and labs -- coming together to prevent Rett syndrome
Two labs investigated whether the disruption of one protein's condensate-forming ability contributes to Rett syndrome. During these investigations, the researchers also uncovered how cells may use condensates to help organize the active and inactive parts of chromosomes. Their findings, published in the journal Nature on June 22, report on these insights and suggest new paths for developing therapies for Rett syndrome. (2020-07-22)

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