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.

First U.S. population prevalence study of mutations in the gene that causes fragile X

The first U.S. population prevalence study of mutations in the gene that causes fragile X syndrome, the most common inherited form of intellectual disability, suggests the mutation in the gene - and its associated health risks - may be more common than previously believed.

15 Jun 2012

Folic acid taken during first month of pregnancy reduces risk of autism in children

A new study by researchers at the UC Davis MIND Institute suggests that women who consume the recommended daily dosage of folic acid, the synthetic form of folate or vitamin B-9, during the first month of pregnancy may have a reduced risk of having a child with autism.

15 Jun 2012

PERK protein necessary to maintain behavioral flexibility

Researchers have identified a protein necessary to maintain behavioral flexibility, which allows us to modify our behaviors to adjust to circumstances that are similar, but not identical, to previous experiences. Their findings, which appear in the journal Cell Reports, may offer new insights into addressing autism and schizophrenia—afflictions marked by impaired behavioral flexibility.

25 May 2012

Researchers generate neuronal cells from patients with Fragile X syndrome

Researchers at the Hebrew University of Jerusalem have achieved, for the first time, the generation of neuronal cells from stem cells of Fragile X patients. The discovery paves the way for research that will examine restoration of normal gene expression in Fragile X patients.

23 May 2012

Autism researcher awarded $1 million grant to apply virtual-reality technology

UC Davis autism researcher and education specialist Peter Mundy has received a $1 million grant from the U.S. Department of Education to apply virtual-reality technology to evaluate social attention and its relation to academic achievement among school children with autism.

3 May 2012

Fragile-X gene linked with disrupting de novo mutations in children with autism

A team led by scientists at Cold Spring Harbor Laboratory (CSHL) publishes research today indicating a striking association between genes found disrupted in children with autism and genes that are targets of FMRP, the protein generated by the gene FMR1, whose dysfunction causes Fragile-X syndrome.

26 Apr 2012

Study shows how PCBs could add to autism risk

New research from UC Davis and Washington State University shows that PCBs, or polychlorinated biphenyls, launch a cellular chain of events that leads to an overabundance of dendrites - the filament-like projections that conduct electrochemical signals between neurons - and disrupts normal patterns of neuronal connections in the brain.

26 Apr 2012

New compound reverses major symptoms associated with FXS

A recent study finds that a new compound reverses many of the major symptoms associated with Fragile X syndrome (FXS), the most common form of inherited intellectual disability and a leading cause of autism. The paper, published by Cell Press in the April 12 issue of the journal Neuron, describes the exciting observation that the FXS correction can occur in adult mice, after the symptoms of the condition have already been established.

12 Apr 2012

First study to examine links between neurodevelopmental disorders and maternal metabolic conditions

A major study of the relationships between maternal metabolic conditions and the risk that a child will be born with a neurodevelopmental disorder has found strong links between maternal diabetes and obesity and the likelihood of having a child with autism or another developmental disability.

9 Apr 2012

Symposium discusses links between genetic, epigenetic and environmental influences on autism

Two UC Davis MIND Institute researchers will lead a symposium on relationships between genetic, epigenetic and environmental influences on the development of autism in children during the American Association for the Advancement of Science (AAAS) Annual Meeting, Feb. 16 -18 in Vancouver, Canada.

20 Feb 2012

Exposure to common flame retardant may affect fertility and long-term memory

Mice genetically engineered to be susceptible to autism-like behaviors that were exposed to a common flame retardant were less fertile and their offspring were smaller, less sociable and demonstrated marked deficits in learning and long-term memory when compared with the offspring of normal unexposed mice, a study by researchers at UC Davis has found.

16 Feb 2012

Earlier detection of Fragile X syndrome made possible

Now families children with fragile X syndrome may have a chance of earlier detection and intervention. The Murdoch Children's Research Institute breakthrough could allow newborn screening of the world's most common cause of inherited developmental disability. The research findings were published in the journal Clinical Chemistry.

19 Jan 2012

UCSD scientist honored for Down syndrome research

William C. Mobley, MD, PhD, chair of the Department of Neurosciences at the University of California, San Diego School of Medicine and Chairman of the U.S. Scientific Advisory Committee of the J-r-me Lejeune Foundation, was recognized by U.S. Congressman Pete Sessions from the floor of the House of Representatives in December. Sessions said of Mobley - who received the International Sisley-J-r-me Lejeune Prize in a ceremony at the Museum of Medical History in Paris on December 8.

5 Jan 2012

Study highlights need for greater recognition of sexual and reproductive healthcare needs of teen boys

Two newly published reports by investigators at the Johns Hopkins Children's Center highlight the need for greater recognition of the sexual and reproductive healthcare needs of teen boys and enumerate the essential services this traditionally overlooked group should receive at least once a year.

9 Dec 2011

Researchers to begin drug development projects for rare and neglected diseases

Researchers will begin drug development projects for rare and neglected diseases that include potential treatments for a musculoskeletal disorder, a cognitive dysfunction disorder, a virus that affects the central nervous system of newborns, a parasitic worm infection, a form of muscular dystrophy and a rare lung disease.

16 Nov 2011

Scientists find new tools to help understand neurodevelopmental disorders

Research released today shows that scientists are finding new tools to help understand neurodevelopmental disorders like autism and fragile X syndrome. These studies show in new detail how the brain's connections, chemicals, and genes interact to affect behavior.

15 Nov 2011

Researchers identify FMRP protein as key player in RNA editing

The most common form of heritable cognitive impairment is Fragile X Syndrome, caused by mutation or malfunction of the FMR1 gene. Loss of FMR1 function is also the most common genetic cause of autism. Understanding how this gene works is vital to finding new treatments to help Fragile X patients and others.

31 Oct 2011

Women with MET genetic variant and autoantibodies more likely to have autistic children

A study by researchers at UC Davis has found that pregnant women with a particular gene variation are more likely to produce autoantibodies to the brains of their developing fetuses and that the children of these mothers are at greater risk of later being diagnosed with autism.

20 Oct 2011

Afraxis to participate in NIH's Therapeutics for Rare and Neglected Disease Program

Afraxis, a San Diego-based biotechnology company developing drugs to treat rare genetic diseases through the modulation of p21-activated kinase (PAK), announced today that it has been selected to participate in the National Institutes of Health's (NIH) Therapeutics for Rare and Neglected Disease (TRND) Program.

27 Sep 2011

Potential new treatment for fragile X syndrome

Researchers at Vanderbilt University Medical Center, in collaboration with Seaside Therapeutics in Cambridge, Mass., have achieved a milestone in the development of a potential new treatment for fragile X syndrome, the most common genetic cause of autism.

16 Sep 2011