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.

Genetic mutation found to restore translational balance in mice

In a biological quirk that promises to provide researchers with a new approach for studying and potentially treating Fragile X syndrome, scientists at the University of Massachusetts Medical School (UMMS) have shown that knocking out a gene important for messenger RNA (mRNA) translation in neurons restores memory deficits and reduces behavioral symptoms in a mouse model of a prevalent human neurological disease.

21 Oct 2013

SAGE Therapeutics obtains $20M Series B financing from two investors

SAGE Therapeutics, a biopharmaceutical company developing novel medicines to treat central nervous system (CNS) diseases, today announced a $20 million Series B financing from investors ARCH Venture Partners and Third Rock Ventures, bringing the total raised to $57.8 million since launch in 2011.

16 Oct 2013

Neuroscientist receives CAREER grant to research on auditory processing and sound localization

Twenty years ago Khaleel A. Razak was an electronics engineering student focused on creating a telephone for hearing-impaired children in Chennai, India. Today he is a neuroscientist at the University of California, Riverside whose research on how the brain processes everyday sounds may lead to therapies for age-related hearing problems and Fragile X Syndrome.

10 Oct 2013

Scientists study genetic factors involved in complex diseases

Although heavily studied, the specific genetic causes of "complex diseases," a category of disorders which includes autism, diabetes and heart disease, are largely unknown due to byzantine genetic and environmental interactions.

27 Sep 2013

Researchers identify the way FMRP contributes to progression of breast cancer

A research team led by scientists from VIB/KU Leuven, Belgium, and the University of Rome Tor Vergata, Italy, in collaboration with several research centers and hospitals in Italy, the United Kingdom and, Belgium, has identified the way Fragile X Mental Retardation Protein or FMRP contributes to the progression of breast cancer.

18 Sep 2013

Children with 22q11.2 deletion syndrome may often be misdiagnosed to have autism

Children with a genetic disorder called 22q11.2 deletion syndrome, who frequently are believed to also have autism, often may be misidentified because the social impairments associated with their developmental delay may mimic the features of autism, a study by researchers with the UC Davis MIND Institute suggests.

18 Sep 2013

Researchers identify specific genetic mutations that contribute to disorders of brain development

A collaborative team of researchers including scientists from UCLA has uncovered evidence that a specific genetic alteration appears to contribute to disorders of brain development, including schizophrenia. They also found that schizophrenia shares a common biological pathway with Fragile X mental retardation syndrome, a disorder associated with both intellectual impairment and autism.

7 Aug 2013

Disruption to TOP3B gene increases susceptibility to schizophrenia and a learning disorder

A team of researchers have shown that schizophrenia and a disorder associated with autism and learning difficulties share a common biological pathway. This is one of the first times that researchers have uncovered genetic evidence for the underlying causes of schizophrenia.

5 Aug 2013

New NIH projects to target Fragile X syndrome, nicotine addiction and AMD

The National Institutes of Health has launched three innovative projects that will focus on development of therapeutics for Fragile X syndrome, nicotine addiction, and age-related macular degeneration. These projects are funded through the NIH Blueprint Neurotherapeutics Network which provides access to a variety of drug development resources.

1 Aug 2013

Statins: A class of cholesterol-lowering drugs may help treat Rett Syndrome

Statins, a class of cholesterol-lowering drugs found in millions of medicine cabinets, may help treat Rett Syndrome, according to a study published today in Nature Genetics. The Rett Syndrome Research Trust (RSRT) funded this work with generous support from the Rett Syndrome Research Trust UK and Rett Syndrome Research & Treatment Foundation.

30 Jul 2013

Genome sequencing promises to identify rare mutations that give rise to autism

An international consortium, consisting of Autism Speaks, Duke University School of Medicine, The Hospital for Sick Children of Toronto, BGI and other institutes, has investigated the genetic variants in 32 families with Autism Spectrum Disorder (ASD).

12 Jul 2013

Prader-Willi syndrome results in dysregulation of circadian and metabolic genes

Researchers with the UC Davis MIND Institute and Agilent Laboratories have found that Prader-Willi syndrome - a genetic disorder best known for causing an insatiable appetite that can lead to morbid obesity - is associated with the loss of non-coding RNAs, resulting in the dysregulation of circadian and metabolic genes, accelerated energy expenditure and metabolic differences during sleep.

26 Jun 2013

Scientists discover how Arc protein helps translate learning into memory

Scientists at the Gladstone Institutes have deciphered how a protein called Arc regulates the activity of neurons-providing much-needed clues into the brain's ability to form long-lasting memories. These findings, reported today in Nature Neuroscience, also offer newfound understanding as to what goes on at the molecular level when this process becomes disrupted.

10 Jun 2013

Researchers provide insights into potential therapeutic approaches to Down syndrome

University of Michigan researchers have determined how a gene that is known to be defective in Down syndrome is regulated and how its dysregulation may lead to neurological defects, providing insights into potential therapeutic approaches to an aspect of the syndrome.

6 Jun 2013

UCLA researchers identify abnormal brain networks in Fragile X syndrome

The genetic malady known as Fragile X syndrome is the most common cause of inherited autism and intellectual disability. Brain scientists know the gene defect that causes the syndrome and understand the damage it does in misshaping the brain's synapses - the connections between neurons. But how this abnormal shaping of synapses translates into abnormal behavior is unclear.

5 Jun 2013

Researchers establish link between abnormal structure of synapses and behavioral abnormalities of brain circuits in FXS

Fragile X syndrome (FXS) is a genetic malady that is the most common inherited cause of autism and intellectual disability. Brain scientists know the gene defect that causes FXS, and the damage it does-- misshaping the brain's synapses, the connections between neurons. But how that abnormal shaping of synapses translates to abnormal behavior is unclear.

4 Jun 2013

Abnormal protein translation leads to Fragile X ataxia, study finds

A bizarre twist on the usual way proteins are made may explain mysterious symptoms in the grandparents of some children with mental disabilities.

19 Apr 2013

Antibiotic drug minocycline yields modest improvements in children with fragile X syndrome

The antibiotic drug minocycline yields "modest" but meaningful improvements in functioning and mood for children with fragile X syndrome (FXS), reports a study in the April Journal of Developmental & Behavioral Pediatrics, the official journal of the Society for Developmental and Behavioral Pediatrics.

9 Apr 2013

Researchers at UC Davis MIND Institute to establish Autism Center of Excellence and Treatment Network

Autism researchers at the UC Davis MIND Institute have received a prestigious $13 million award from the National Institutes of Health to establish an Autism Center of Excellence and Treatment Network, making the MIND Institute one of only nine such centers in the United States.

3 Apr 2013

Mindfulness meditation can reduce stress hormone

Focusing on the present rather than letting the mind drift may help to lower levels of the stress hormone cortisol, suggests new research from the Shamatha Project at the University of California, Davis.

29 Mar 2013