Fragile X Syndrome News and Research

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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.

AMO Pharma raises $25 million in private equity financing

AMO Pharma Limited, a privately held biopharmaceutical company focusing on debilitating diseases with limited or no treatment options, announced today that the company has raised $25 million in private equity financing from Woodford Investment Management.

30 Sep 2015

UCI scientists find potential biomarker for diagnosing certain forms of autism

By identifying a key signaling defect within a specific membrane structure in all cells, University of California, Irvine researchers believe, they have found both a possible reliable biomarker for diagnosing certain forms of autism and a potential therapeutic target.

22 Sep 2015

Loss of critical receptor in the brain may be responsible for autism, schizophrenia

The loss of a critical receptor in a special class of inhibitory neurons in the brain may be responsible for neurodevelopmental disorders including autism and schizophrenia, according to new research by Salk scientists.

12 Aug 2015

Scientists discover protein that plays significant role in development of fragile X syndrome

Scientists at VIB and KU Leuven have discovered that the protein APP plays a significant role in the development of fragile X syndrome (FXS) at young stages. They identified an unexpected biological pathway as a promising target to ameliorate deficits associated with FXS and autism. The results have recently been published in Neuron, one of the most influential journals in the field of neuroscience.

16 Jul 2015

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.

26 Jun 2015

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.

11 Jun 2015

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.

11 Jun 2015

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.

4 Jun 2015

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.

25 Apr 2015

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.

15 Apr 2015

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.

30 Mar 2015

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.

30 Mar 2015

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.

24 Mar 2015

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.

15 Feb 2015

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.

17 Jan 2015

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.

10 Dec 2014

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.

27 Nov 2014

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.

18 Nov 2014

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).

17 Nov 2014

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.

3 Nov 2014