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.

TSRI study offers first look at early stages of brain development in patients with Fragile X syndrome

A new study led by scientists at The Scripps Research Institute is giving researchers a first look at the early stages of brain development in patients with Fragile X syndrome, a disorder that causes mild to severe intellectual disability and is the most common genetic cause of autism spectrum disorder.

31 Jan 2017

Psychologist designs interactive game for testing memory

Psychologist Jamie Edgin studies human memory at the University of Arizona, where her research often involves working with very young children and children with intellectual disabilities.

6 Oct 2016

Researchers propose new explanation for symptoms of fragile X syndrome

Until recently, scientists thought they understood one of the underlying causes of fragile X syndrome, the most common inherited cause of intellectual disability in the United States.

20 Sep 2016

SSRI treatment improves cognitive and social functioning in young children with fragile X

Treatment with sertraline may provide nominal but important improvements in cognition and social participation in very young children with fragile X syndrome, the most common genetic cause of intellectual disability and the leading single-gene cause of autism, a study by researchers with the UC Davis MIND Institute has found.

26 Aug 2016

NIH researchers design new set of assays for initial screening of patients with Fragile X syndrome

Fragile X syndrome, the most common heritable cause of intellectual disability and a frequent cause of autism, is characterized by abnormalities of the FMR1 gene that are difficult to analyze.

12 Aug 2016

Researchers identify astroglia-mediated mechanism for causing FXS symptoms in mice

A study published today in the Journal of Neuroscience led by Yongjie Yang of Tufts University School of Medicine identifies an astroglial trigger mechanism as contributing to symptoms of fragile X syndrome in mice.

6 Jul 2016

Recommendations for integrating genomic results into clinical practice

A quiet transformation has been brewing in medicine, as large-scale DNA results become increasingly available to patients and healthcare providers.

1 Jul 2016

Why does appetite loss occur during illness? An interview with Prof. Conti and Prof. Francesconi

Appetite, as a word, come from the Latin appetitus, meaning "desire for.” Therefore, appetite can be defined as a pleasurable sensation or the desire to eat. This sensation is coordinated by several brain areas associated with reward processing such amygdala, hippocampus, ventral pallidum, nucleus accumbens and striatum, and others.

28 Jun 2016

Neurotherapeutic video game may help improve cognitive abilities in children with genetic disorders

A UC Davis researcher has created a video game for children who experience cognitive impairments from genetic disorders with the hope that that it will improve their ability to mentally process information about space and time.

23 Jun 2016

Diabetic mothers three times more likely to have anti-fetal brain autoantibodies

Mothers of children with autism and were diagnosed with metabolic conditions during pregnancy, particularly gestational and type 2 diabetes, were more likely to have anti-fetal brain autoantibodies in their blood compared to healthy women of children with autism.

20 Jun 2016

Researchers receive $2.4 million grant to study effects of parenting on behavior of adolescents with FXS

University of Kansas researchers have been awarded a five-year, $2.4 million grant from the Eunice Kennedy Shriver National Institute of Child Health and Human Development to study the effects of parenting on the development and behavior of adolescents with Fragile X syndrome, a single-gene disorder that is the most common cause of inherited developmental disability and the leading genetic cause of autism.

9 Jun 2016

Maternal immune dysfunction linked to risk of autism with intellectual disability in children

Pregnant women with higher levels of inflammatory cytokines and chemokines, proteins that control communication between cells of the immune system, may be at significantly greater risk of having a child with autism combined with intellectual disability, researchers with the UC Davis MIND Institute have found.

8 Jun 2016

Scientists develop new technology that helps visualize translation of mRNA into proteins

For the first time, scientists at Albert Einstein College of Medicine have developed a technology allowing them to "see" single molecules of messenger RNA as they are translated into proteins in living mammalian cells. Initial findings using this technology that may shed light on neurological diseases as well as cancer were published online today in Science.

9 May 2016

Novel spoken-language intervention could benefit children, adolescents with developmental disabilities

Sean Sawicki, who has fragile X syndrome, can be hard to understand and doesn't always have the attention span to carry on a sustained conversation. But a novel intervention developed by UC Davis MIND Institute researchers seems to be making a difference.

28 Apr 2016

Experimental cancer drug Nutlin-3 shows promise in cancelling effects of fragile X syndrome

A University of Wisconsin-Madison researcher who studies the most common genetic intellectual disability has used an experimental drug to reverse — in mice — damage from the mutation that causes the syndrome.

28 Apr 2016

New fruit fly model study reveals metabolic pathway that can be targeted to treat FXS patients

Fragile X syndrome (FXS) is the most common genetically inherited cause of intellectual disability in humans. New research shows how the hormone insulin -- usually associated with diabetes -- is involved in the daily activity patterns and cognitive deficits in the fruitfly model of FXS, according to a new study from the Perelman School of Medicine at the University of Pennsylvania published online this month in Molecular Psychiatry in advance of the print issue.

27 Apr 2016

Tumor suppressor p53 gene twice as likely to be defective in autistic children

A large study by researchers with the UC Davis MIND Institute has found that a gene whose role is to suppress cellular damage from environmental stressors is nearly twice as likely to be defective in children with autism spectrum disorder (ASD), and that the deficit is also present in their fathers.

1 Apr 2016

Tetra begins human Phase 1 safety trials of BPN14770

Tetra Discovery Partners today announced that the company has initiated human Phase 1 safety trials of its lead compound BPN14770, which Tetra is developing as a potential treatment to both improve memory and slow the progression of Alzheimer's disease.

9 Dec 2015

Only few doctors refer children with developmental delays to genetics specialists, say researchers

A nine-month-old boy isn't rolling over, reaching for objects or babbling as he should be. One step his doctor won't likely take right away: have him evaluated by a genetics specialist.

15 Oct 2015

Genetic carrier screening: an interview with Don Hardison, CEO of Good Start Genetics

Carrier screening provides you and your doctor with information about your risks of having a child with a serious genetic disease prior to or during pregnancy.

6 Oct 2015