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.

Research findings hold promise for debilitating emotional symptoms of FXS

The study, which appears in the journal the Proceedings of the National Academy of Sciences, is also of potential therapeutic significance-it showed that a brief pharmacological treatment is capable of correcting some of these synaptic deficits in mice genetically engineered to model FXS.

9 Jun 2010

UT Southwestern researchers uncover core function of gene involved in Fragile X syndrome

Researchers at UT Southwestern Medical Center have discovered how the genetic mutation that causes Fragile X syndrome, the most common form of inherited mental retardation, interferes with the "pruning" of nerve connections in the brain. Their findings appear in the April 29 issue of Neuron.

10 May 2010

Fragile X syndrome iPS cells and embryonic stem cells behave differently: Study

In the last three years, a new technique for reprogramming adult cells has given scientists an easier and less controversial way to harness the power of embryonic-like stem cells to study human disease from its earliest beginnings in hopes of gleaning new insights into the root causes of disease and developing new therapies.

7 May 2010

Brain changes indicative of Fragile X syndrome take place early

Brain changes associated with the most common cause of mental retardation can be seen in magnetic resonance imaging (MRI) scans of children as young as one to three years old, according to a study by researchers at the University of North Carolina at Chapel Hill and Stanford University.

4 May 2010

World's largest autism science and advocacy organization awards 16 new research grants

Autism Speaks, the world's largest autism science and advocacy organization, today announced the awarding of 16 new research grants totaling $5,223,743 over the next three years.

9 Apr 2010

Novel test may help identify newborns with fragile X syndrome

A newly developed test appears highly accurate in identifying newborns with fragile X syndrome—the most common inherited cause of cognitive impairment—as well as identifying couples who are carriers of the causative gene, reports a study in the March issue of Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics.

25 Mar 2010

Committee recommends inclusion of genetic diseases in newborn screening program

The experts who make recommendations for genetic disease screening in newborns face a challenging task: To make conclusions based on the most authoritative available evidence, while considering gaps in the research on such rare conditions, as well as their human impact. An overview of the steps followed by the expert panels tasked with making these recommendations is presented in a special section of the current issue of Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics.

25 Mar 2010

HMS study suggests new targets for treating Angelman syndrome

Angelman Syndrome is a rare but serious genetic disorder that causes a constellation of developmental problems in affected children, including mental retardation, lack of speech, and in some cases, autism. Over a decade ago, researchers found that AS was caused by mutation in a single gene, but no one had been able to explain how this defect resulted in the debilitating neurological symptoms of the disease.

5 Mar 2010

Study results of new PCR technology that reports mutations associated with FXS announced

Asuragen, Inc. announced today the results of a collaborative study with scientists at the M.I.N.D. Institute at the University of California Davis evaluating a new PCR technology that reproducibly reports mutations associated with Fragile X syndrome (FXS).

2 Mar 2010

New research finds sensory cortex develops late in fragile X syndrome defect

Why do people with fragile X syndrome, a genetic defect that is the best-known cause of autism and inherited mental retardation, recoil from hugs and physical touch - even from their parents?

12 Feb 2010

Critical phases of brain development may be mistimed in autistic patients, says study

Research into Fragile X Syndrome - a genetic condition that is the leading known cause of autism - has discovered that critical phases in the brain's development may be mistimed in people with the condition.

11 Feb 2010

Seaside Therapeutics granted U.S patent covering methods of treating autism

Seaside Therapeutics LLC today announced the issuance of U.S. patent 7,648,993 B2 (‘993 patent), which covers methods of treating autism with group 1 antagonists of the metabotropic glutamate receptor (mGluR) pathway. An earlier related patent, U.S. patent 6,890,931 B2 (‘931 patent), was issued in 2005 and covers methods of treating Fragile X Syndrome, the most common known cause of autism, with group 1 antagonists of the mGluR pathway.

10 Feb 2010

NYU professor conducts genetic screening at academic campuses in Boston

Dr. Harry Ostrer, professor of pediatrics, pathology and medicine at NYU Langone Medical Center will be conducting genetic screening at four college campuses in Boston on February 1st and 2nd. Individuals interested in being screened should sign- up online at www.med.nyu.edu/genetics.

28 Jan 2010

NFXF applauds the Congress and President for including Fragile X Syndrome for research funding

The National Fragile X Foundation applauds the United States Congress and President Barack Obama for including Fragile X Syndrome for the first time ever within a select group of conditions eligible for research funding from the U.S. Department of Defense.

30 Dec 2009

Test tube experiments show slight changes in protein chemistry can eliminate Huntington's disease in mice

In Huntington's disease, a mutated protein in the body becomes toxic to brain cells. Recent studies have demonstrated that a small region adjacent to the mutated segment plays a major role in the toxicity. Two new studies supported by the National Institutes of Health show that very slight changes to this region can eliminate signs of Huntington's disease in mice.

28 Dec 2009

The National Fragile X Foundation awards $100,000 grant for study of minocycline in FXS children

The National Fragile X Foundation has awarded a translational research seed grant of $100,000 to Dr. Randi J. Hagerman at the UC Davis M.I.N.D. Institute in California for a study of minocycline in the treatment of children with fragile X syndrome (FXS). Hagerman is an internationally recognized clinician and clinical researcher on FXS, the most common cause of inherited mental impairment.

8 Dec 2009

Early intervention for young children with autism improves IQ, communication and social interaction

A novel early intervention program for very young children with autism - some as young as 18 months - is effective for improving IQ, language ability, and social interaction, a comprehensive new study has found.

30 Nov 2009

Seaside Therapeutics commences STX107 Phase 1 clinical trial for Fragile X Syndrome

Seaside Therapeutics LLC today announced that the Company has initiated a Phase 1 clinical trial of STX107, a highly potent, selective mGluR5 antagonist, in development for the treatment of Fragile X Syndrome. The single ascending dose study is designed to evaluate the safety, tolerability and pharmacokinetics of STX107 in healthy volunteers. Fragile X Syndrome is the most common inherited form of mental impairment and the most common known cause of autism.

3 Nov 2009

Phase 1 study of STX107 for Fragile X syndrome begins

NIH-supported scientists at Seaside Therapeutics in Cambridge, Mass., are beginning a clinical trial of a potential medication designed to correct a central neurochemical defect underlying Fragile X syndrome, the most common inherited cause of intellectual disability. There has to date been no medication that could alter the disorder's neurologic abnormalities. The study will evaluate safety, tolerability, and optimal dosage in healthy volunteers.