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Mice with big brains provide insight into brain regeneration and developmental disorders
Scientists at the Ottawa Hospital Research Institute and the University of Ottawa have discovered that mice that lack a gene called Snf2l have brains that are 35 percent larger than normal. The research, led by Dr. David Picketts and published in the prestigious journal Developmental Cell, could lead to new approaches to stimulate brain regeneration and may provide important insight into developmental disorders such as autism and Rett syndrome. (2012-05-15)

New insight about the source of anxiety in Rett syndrome
A peptide known to play a role in anxiety is overly plentiful in a mouse model of the inherited neurological disorder Rett syndrome and appears to underlie the anxiety-like behavior in these mice. The finding could provide a clue to treatment for this symptom. (2006-11-13)

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. (2007-10-03)

Scientists identify genetic mechanism involved in how females inherit traits
Female cells randomly and permanently shut off one of the X chromosomes during embryonic development through a process called X chromosome inactivation, or XCI. Just how XCI occurs has remained unclear -- until now. New research performed on mouse female embryonic stem cells by scientists at the University of California, Riverside, traces the origin of XCI to an RNA splicing mechanism. (2019-02-20)

Researchers discover novel form of the Rett Syndrome protein
Research spearheaded by investigators from The Hospital for Sick Children and the University of Toronto has uncovered a new form of the protein, MeCP2, that is ten times more prevalent in adult human brain then the originally described form. The findings will be reported in the April issue of the scientific journal Nature Genetics (available online March 21, 2004). (2004-03-21)

Stem cell-derived 'mini-brains' reveal potential drug treatment for rare disorder
Using 'mini-brains' built with induced pluripotent stem cells derived from patients with a rare, but devastating, neurological disorder, researchers at University of California, San Diego School of Medicine say they have identified a drug candidate that appears to 'rescue' dysfunctional cells by suppressing a critical genetic alteration. (2015-09-08)

Research Symposium and Family Conference brings 4 rare childhood genetic disorders together
A landmark national research symposium (June 21-24) and family conference (June 24-26) for Rett syndrome, CDKL5 disorder, FOXG1 disorder and MECP2 Duplication will be held at the Eaglewood Resort in a suburb of Chicago. This first ever effort by related disorders combines meetings to expand research horizons, find hope in unity, and maximize precious foundation resources. (2016-02-24)

Rett Syndrome Research Trust awards $1.3 million for clinical trial
A surgical sedative may hold the key to reversing the devastating symptoms of a neurodevelopmental disorder found almost exclusively in females. Ketamine, used primarily for operative procedures, has shown such promise in mouse models that Case Western Reserve and Cleveland Clinic researchers soon will launch a two-year clinical trial using low doses of the medication in up to 35 individuals with Rett Syndrome. (2015-03-23)

RSRF-funded research links Rett syndrome to mitochondrial gene
New research from the lab of Adrian Bird, a molecular geneticist at the University of Edinburgh, Scotland, reveals that abnormally high levels of a protein called Uqcrc1 in the brains of mouse models of Rett Syndrome cause mitochondria--the cells' powerhouses--to work overtime. (2006-06-23)

Rett protein needed for adult neuron function
Girls born with dysfunctional MeCP2 (methyl-CpG-binding protein 2) develop Rett syndrome, a neurological disorder. Too much MeCP2 can cause spasticity or developmental delay with autism-like symptoms in boys. Now, researchers at Baylor College of Medicine and Texas Children's Hospital have found that the neuron needs a steady supply of this protein for its entire existence. A report on this research appears online in Science Express. (2011-06-02)

Study identifies mechanism affecting X chromosome that could lead to new disease therapies
Learning how to inactivate and reactivate an X chromosome would have important implications for medicine. A notable category of beneficiaries could be people with certain congenital diseases known as X-linked disorders, which are caused by mutations in genes on the X chromosome. (2020-06-12)

Non-invasive first trimester blood test reliably detects Down's syndrome
Cell-free fetal DNA testing, which measures the relative amount of free fetal DNA in a pregnant woman's blood, is a new screening test that indicates the risk of Down syndrome (trisomy 21), (2015-02-02)

UCSD researchers create autistic neuron model
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 and could be used as a tool for drug screening, diagnosis and personalized treatment. (2010-11-11)

In Rett syndrome model, team shows how adult learning is impaired in females
In mouse models of Rett syndrome -- which in humans is seen overwhelmingly in females -- researchers have demonstrated how failure of Mecp2, the mouse equivalent of the human gene of the same name, has biological consequences that prevent adult females from learning how to gather newborn pups in the days immediately following the pups' birth. They reversed the defect. (2017-01-18)

RSRF-funded research yields novel function for Rett syndrome gene
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. This work was funded in part by the Rett Syndrome Research Foundation (RSRF). (2005-10-18)

Exosomes may hold the answer to treating, diagnosing developmental brain disorders
In new research published in Proceedings of the National Academy of Sciences, Hollis Cline, PhD, and her colleagues at Scripps Research shed new light on the role that exosomes play in brain development. They show that exosomes are not only integral to the development of neurons and neural circuits, but they can restore health to brain cells affected by developmental disease. (2019-07-22)

Normalizing the levels of MeCP2 in a mouse model of MECP2 duplication syndrome restores neurological
Gene duplications are a common cause of intellectual disabilities and autism as well as various other neurological disorders. In a new study that appears online in the journal Nature, Dr. Huda Zoghbi, professor of molecular and human genetics at Baylor College of Medicine, and director of the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, and her team showed that there is a new potential way to treat such disorders. (2015-11-25)

2 genes affect anxiety, behavior in mice with too much MeCP2
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 College of Medicine scientists. (2012-01-08)

Researchers confirm novel form of the Rett syndrome protein
Adrian Bird and Skirmantas Kriaucionis of the University of Edinburgh have discovered a novel form of the protein MeCP2. This alternate form, coined MeCP2 alpha, differs from the original only in the first 19 amino acids. Interestingly, Adrian Bird, Director of the Welcome Trust Centre for Cell Biology at Edinburgh University, found that MeCP2 alpha, is ten times more prevalent not only in the brain but also in other tissues. (2004-03-22)

Study casts doubt over value of popular PMS treatment
Treatment of premenstrual syndrome with the hormone progesterone or progestogens (a group of drugs similar to progesterone) is unlikely to be effective, despite the continued popularity of these treatments in the United Kingdom and the United States, concludes a study in this week's BMJ. (2001-10-04)

Insights into activity-dependent neuronal growth through RSRF-supported research
BDNF has been a subject of keen interest, turning up in studies of conditions ranging from central hypoventilation syndrome to obsessive-compulsive disorder, depression, bipolar disorder and schizophrenia -- a range of disorders uncannily parallel to those produced by mutations in the (2006-10-20)

Lab-grown human brain organoids mimic an autism spectrum disorder, help test treatments
UC San Diego researchers used brain organoids to identify two drug candidates that counteract the genetic deficiencies that cause Rett syndrome, a rare form of autism spectrum disorder. (2020-12-08)

Solving the mechanism of Rett Syndrome
For the first time a human disease has been linked to specific defects in the three-dimensional folding of chromatin. Young girls affected with Rett Syndrome become withdrawn and anxious and develop autistic-like behaviors. The devastating neurological disease was recently tracked to mutations in a gene on the X chromosome, MECP2. How the mutated gene causes the disorder has now been revealed by a team of scientists with the Department of Energy's Lawrence Berkeley National Laboratory. (2004-12-19)

X chromosome reactivation could treat Rett syndrome, other X-linked disorders
A study from a team of Massachusetts General Hospital investigators points toward a potential strategy for treating X-linked disorders -- those caused by mutations in the X chromosome -- in females. (2018-01-04)

CBD may alleviate seizures, benefit behaviors in people with neurodevelopmental conditions
A marijuana plant extract, also known as cannabidiol (CBD), is being commonly used to improve anxiety, sleep problems, pain, and many other neurological conditions. Now UNC School of Medicine researchers show it may alleviate seizures and normalize brain rhythms in Angelman syndrome, a rare neurodevelopmental condition. (2019-09-18)

Experts discuss future of public health research on Down syndrome
Down syndrome, the most commonly identified cause of cognitive impairment, occurs in approximately one in 700 births in the United States. Additionally, nearly 80 percent of fetuses with Down syndrome are lost before birth. (2008-11-06)

Permanent changes in brain genes may not be so permanent after all
In normal development, all cells turn off genes they don't need, often by attaching a chemical methyl group to the DNA, a process called methylation. Historically, scientists believed methyl groups could only stick to a particular DNA sequence: a cytosine followed by a guanine, called CpG. But in recent years, they have been found on other sequences, and so-called non-CpG methylation has been found in stem cells, and in neurons in the brain. (2014-01-27)

Non-coding RNA called Evf2 is important for gene regulation
Can mental disorders result from altered non-coding RNA-dependent gene regulation during embryonic development? This is a question posed by Jhumku Kohtz, Ph.D., of Children's Memorial Research Center. Kohtz, along with her laboratory and colleagues at Northwestern University's Feinberg School of Medicine, has published research in the August issue of Nature Neuroscience that finds for the first time that a non-coding RNA called Evf2 is important for gene regulation and the development of interneurons that produce GABA, the major inhibitory neurotransmitter in the brain. (2009-08-17)

Increasing norepinephrine stabilizes breathing patterns in a mouse model of Rett Syndrome
GĂ©rard Hilaire of the National Center for Scientific Research (CNRS), Laurent Villard of the French National Institutes of Health (INSERM) and Jan-Marino Ramirez of the University of Chicago and colleagues report in the December 14, 2005 issue of the Journal of Neuroscience that the breathing disturbances in a mouse model of Rett Syndrome originate, at least in part, from a deficiency in norepinephrine and serotonin in a specific brain region called the medulla. (2005-12-13)

New findings may lead to treatment for anxiety in Rett Syndrome
The classic form of Rett Syndrome shows us a child who is the picture of anxiety: she wrings her hands, hyperventilates, trembles. The progression of the disorder includes loss of acquired skills, speech and mobility. Many girls with Rett display elevated stress hormones. New studies may shed light on whether much of the anxiety of these children is a response to the experience of Rett, or is an intrinsic aspect of the disorder. (2006-11-13)

Rett Syndrome traced to defective gene 'silencer'
Rett syndrome is one of the most common forms of mental retardation in females. A 14-year search for the mutations that trigger this neurodegenerative disease has uncovered the mutant gene responsible and identified a new genetic pathway involved in the development of the nervous system. (1999-10-01)

BMI just part of ischemic heart disease risk picture
St-Pierre and colleagues report that, among obese men, only those who have more than 4 features of insulin resistance syndrome were at increased risk of ischemic heart disease compared with normal-weight men who had fewer than 3 features of the syndrome. (2005-05-09)

First insights into changes to developing brain caused by gene associated with autism
New insights show how even very small changes to synapses can alter brain function and could lead to intellectual disabilities. (2015-11-17)

Mutation location is the key to prognosis
The three most important factors in real estate are location, location, location, and the same might be said for mutations in the gene MECP2, said researchers at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital in a report in the journal Cell. (2013-02-28)

New cause of child brain tumor condition identified
Doctors and scientists from the University of Manchester have identified changes in a gene, which can increase the risk of developing brain tumors in children with a rare inherited condition called Gorlin syndrome. (2014-12-02)

Modified Atkins diet helps children with rare form of epilepsy
Doose syndrome or myoclonic-astatic epilepsy is a rare syndrome accounting for one to two percent of childhood epilepsies. (2017-02-23)

A common thread links multiple human cognitive disorders
A new study reveals that a common underlying mechanism is shared by a group of previously unrelated disorders which all cause complex defects in brain development and function. Now, research, published by Cell Press in the February 16th issue of the journal Developmental Cell, helps to explain why these different chromatin abnormalities all interfere with proper gene expression patterns necessary for normal development and mature brain function. (2010-02-15)

Blooming health thanks to a frog
In the October 15 issue of the scientific journal Genes & Development, Dr. Hong Yan and his team at Fox Chase Cancer Center in Philadelphia detail their use of frogs to investigate how the gene defective in patients with Bloom's Syndrome functions. (2000-10-14)

Discovery of the genetic 'conductor' of brain stem cells
Our brain comprises 85 billion nerve cells and just as many so-called glial cells. But what decides when and how many of them become neurons or glial cells? A new study has shown how the Foxg1 gene plays a fundamental role in piloting the differentiation of stem cells, guaranteeing that neurons and glial cells are produced in the right quantity and at the right moment. The research opens new roads to understanding and treating incurable genetic diseases. (2019-03-04)

'See through,' high-resolution EEG recording array gives a better glimpse of the brain
Electroencephalograms (EEGs) are commonly used to measure brain activity, but they cannot differentiate the activity of different types of brain cells. Nor is it possible to easily combine EEG data with brain imaging data. A collaboration between Boston Children's Hospital and Northeastern University has led to a highly miniaturized, see-through EEG device. Using it in live, awake mice, researchers were able to capture the electrical outputs of individual neurons while simultaneously performing high-resolution optical imaging. (2018-09-05)

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