Fragile X Syndrome News and Research RSS Feed - Fragile X Syndrome News and Research

Fragile X syndrome is the most common form of inherited mental retardation. A problem with a specific gene causes the disease. Normally, the gene makes a protein you need for brain development. But the mutation causes a person to make little or none of the protein, which results in the symptoms of Fragile X.
New Internet tool may help analyze genes based on their evolutionary profile

New Internet tool may help analyze genes based on their evolutionary profile

Two major revolutions, one genomic and one in informatics, are completely changing the face of biomedical research. Every day all over the world, millions of genetic sequences -- from disease-related genes to complete genomes of plants, animals, bacteria and viruses -- are resolved, identified and dissected. [More]
Two fragile X proteins play crucial role in proper development of neurons

Two fragile X proteins play crucial role in proper development of neurons

Fragile X syndrome is the most common inherited intellectual disability and the greatest single genetic contributor to autism. Unlocking the mechanisms behind fragile X could make important revelations about the brain. [More]
UC San Diego researchers launch clinical trial to evaluate safety, efficacy of suramin drug for autism

UC San Diego researchers launch clinical trial to evaluate safety, efficacy of suramin drug for autism

Researchers at the University of California, San Diego School of Medicine have launched a clinical trial to investigate the safety and efficacy of an unprecedented drug therapy for autism. [More]
Scientists uncover why some people more prone to major depression

Scientists uncover why some people more prone to major depression

Scientists are beginning to unwrap the biology behind why some people are more prone to major depression and other psychiatric disorders than others when experiencing stressful life events. The researchers found that cellular activity in response to stress hormone receptor activation differs from individual to individual. [More]
Researchers identify potential treatment target for fragile X carriers

Researchers identify potential treatment target for fragile X carriers

Fragile X syndrome, an inherited cause of autism and intellectual disability, can have consequences even for carriers of the disorder who don't have full-blown symptoms. [More]
Johns Hopkins researchers named recipients of Hartwell’s 2014 Individual Biomedical Research Award

Johns Hopkins researchers named recipients of Hartwell’s 2014 Individual Biomedical Research Award

Gul Dolen, M.D., Ph.D., an assistant professor of neuroscience at the Johns Hopkins University School of Medicine, and Eili Y. Klein, Ph.D., an assistant professor of emergency medicine, are among 12 recipients of The Hartwell Foundation’s 2014 Individual Biomedical Research Award competition, the foundation announced on April 1. [More]
Patient with severe Alzheimer's shows promising benefits during treatment with Bryostatin drug

Patient with severe Alzheimer's shows promising benefits during treatment with Bryostatin drug

Researchers at the Blanchette Rockefeller Neurosciences Institute and the Marshall University Joan C. Edwards School of Medicine announced their findings from a new study entitled, "PSEN1 Variant in a Family with Atypical AD." An Alzheimer patient with very severe disease, genetically confirmed to have a known variant of PSEN1, showed promising benefits during treatment with the drug Bryostatin 1. [More]
Study: Blood test may help diagnose Fragile X syndrome related disorders in women

Study: Blood test may help diagnose Fragile X syndrome related disorders in women

A blood test may shed new light on Fragile X syndrome related disorders in women, according to a new study published in the March 25, 2015, online issue of Neurology, the medical journal of the American Academy of Neurology. Fragile X is the most common inherited form of intellectual disability and the most frequent genetic cause of autism. [More]
Confluence pharmaceuticals signs co-development and marketing agreement with AOP orphan for fragile X syndrome drug

Confluence pharmaceuticals signs co-development and marketing agreement with AOP orphan for fragile X syndrome drug

Confluence is a biopharmaceutical company focused on developing therapeutic treatments for Fragile X Syndrome and Autism Spectrum Disorders. AOP is an Austrian based company specializing in the development and marketing of medicines for rare and complex diseases. [More]
Scientists find seven new genes that can cause X-linked intellectual disability

Scientists find seven new genes that can cause X-linked intellectual disability

X-linked intellectual disability is a disorder that predominantly affects men and can have highly variable clinical manifestations. Scientists at the Max Planck Institute for Molecular Genetics in Berlin have found seven new genes that can cause this genetic disease: Mutations of these genes on the X chromosome lead to various forms of intellectual disability. [More]
Researchers gain new insight into fragile X syndrome

Researchers gain new insight into fragile X syndrome

Scientists have gained new insight into fragile X syndrome -- the most common cause of inherited intellectual disability -- by studying the case of a person without the disorder, but with two of its classic symptoms. [More]
Learning technique may help overcome cognitive issues in fragile X syndrome

Learning technique may help overcome cognitive issues in fragile X syndrome

A learning technique that maximizes the brain's ability to make and store memories may help overcome cognitive issues seen in fragile X syndrome, a leading form of intellectual disability, according to UC Irvine neurobiologists. [More]
Researchers identify key molecule that drives excess protein production in Fragile X patients' brain

Researchers identify key molecule that drives excess protein production in Fragile X patients' brain

People affected by a common inherited form of autism could be helped by a drug that is being tested as a treatment for cancer. [More]
UMMS scientists awarded $9.5 million grant to study Fragile X syndrome

UMMS scientists awarded $9.5 million grant to study Fragile X syndrome

The National Institutes of Health has awarded a $9.5 million grant to investigators at the University of Massachusetts Medical School to establish a Center for Collaborative Research in Fragile X, one of three centers designated by the NIH. [More]
Study underlines critical role of Fragile X mental retardation protein in brain development

Study underlines critical role of Fragile X mental retardation protein in brain development

Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability (ID), as well as the most frequent monogenic cause of autism spectrum disorders (ASD). FXS is caused by the absence or incorrect production of the protein FMRP (Fragile X Mental Retardation Protein). [More]
Researchers to develop new tests to evaluate cognitive growth in people with intellectual disability

Researchers to develop new tests to evaluate cognitive growth in people with intellectual disability

Leading researchers, funded through a new, five-year, $3.2 million grant from the National Institutes of Health, are collaborating to develop and evaluate tests designed to measure and track changes in the cognitive functioning of people who typically are difficult to assess accurately: those with an intellectual disability, formerly termed mental retardation. [More]

Researchers receive NIH grant to study mechanisms of auditory hypersensitivity in fragile X syndrome

Fragile X syndrome (FXS) is a genetic disorder in humans that causes social impairments and repetitive behaviors, and other behaviors on the autistic spectrum, as well as cognitive deficits. [More]
Specific perceptual learning deficit associated with Fragile X Syndrome

Specific perceptual learning deficit associated with Fragile X Syndrome

Researchers at Children's Hospital Los Angeles have described for the first time a specific perceptual learning deficit in mice with a mutation of the same gene as found in children with Fragile X Syndrome (FXS). [More]
Study examines relationship between maternal iron intake and offspring autism risk

Study examines relationship between maternal iron intake and offspring autism risk

Mothers of children with autism are significantly less likely to report taking iron supplements before and during their pregnancies than the mothers of children who are developing normally, a study by researchers with the UC Davis MIND Institute has found. [More]
Treatment at earliest age reduces symptoms of autism spectrum disorder

Treatment at earliest age reduces symptoms of autism spectrum disorder

Treatment at the earliest age when symptoms of autism spectrum disorder (ASD) appear - sometimes in infants as young as 6 months old - significantly reduces symptoms so that, by age 3, most who received the therapy had neither ASD nor developmental delay, a UC Davis MIND Institute research study has found. [More]
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