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.

Penn researchers find common thread linking almost all TNR expansion diseases

In a class of roughly 30 neurological disorders that includes ALS, Huntington's Disease and Fragile X Syndrome, the relevant mutant gene features sections of repeating base pair sequences known as short tandem repeats, or STRs. Healthy people have STRs of normal lengths distributed across their DNA.

19 Sep 2018

Researchers identify key protein involved in irregular brain cell activity

In a new study in mice, researchers have identified a key protein involved in the irregular brain cell activity seen in autism spectrum disorders and epilepsy. The protein, p53, is well-known in cancer biology as a tumor suppressor.

17 Jul 2018

New drug strategy can alleviate multiple behavioral, cellular deficiencies in FXS mouse model

Research in mice shows that a pharmacological strategy can alleviate multiple behavioral and cellular deficiencies in a mouse model of fragile X syndrome, the most common inherited form of intellectual disability and a major single-gene cause of autism spectrum disorders.

13 Jul 2018

CRISPR technique reduces repetitive behavior in fragile X syndrome mouse models

Scientists have used CRISPR-Cas9 gene editing to lessen some autism symptoms in mice with a form of fragile X syndrome, the most common known single-gene cause of autism spectrum disorder.

25 Jun 2018

Researchers use gene editing to reduce autism symptoms in mice

Researchers have used CRISPR-Cas9 gene editing to treat symptoms of autism in mice. It is hoped that the tool could one day be used to help humans.

25 Jun 2018

Study reveals differences in the brains of children with fragile X syndrome

For the first time, UNC School of Medicine researchers have used MRIs to show that babies with the neurodevelopmental condition fragile X syndrome had less-developed white matter compared to infants that did not develop the condition.

4 Apr 2018

Fresh insights into depression could pave way for new therapies

Fresh insights into changes in the brain linked to depression could pave the way for new therapies.

27 Feb 2018

Lab-grown cerebellar cells may help explain how ASD develops at molecular level

Increasing evidence has linked autism spectrum disorder with dysfunction of the brain's cerebellum, but the details have been unclear. In a new study, researchers at Boston Children's Hospital used stem cell technology to create cerebellar cells known as Purkinje cells from patients with tuberous sclerosis complex, a genetic syndrome that often includes ASD-like features.

19 Feb 2018

Findings provide better understanding of cognitive inflexibility in Fragile X Syndrome

Mice with the genetic defect that causes Fragile X syndrome (FXS) learn and remember normally, but show an inability to learn new information that contradicts what they initially learned, shows a new study by a team of neuroscientists.

22 Jan 2018

Research provides path to possible treatment for Fragile X Syndrome and other types of autism

In Fragile X Syndrome--the leading genetic form of intellectual disability and autism--the effects of a single defective gene ripple through a series of chemical pathways, altering signals between brain cells.

3 Nov 2017

Maternal folic acid intake round conception may reduce children's pesticide-related autism risk

Researchers at UC Davis and other institutions have shown that mothers who take recommended amounts of folic acid around conception might reduce their children's pesticide-related autism risk.

8 Sep 2017

Study findings may help develop marker to identify anxiety in fragile X syndrome patients

Anxiety occurs at high rates in children with fragile X syndrome (FXS), the most common form of inherited intellectual disability. Children with co-occurring anxiety tend to fare worse, but it can be hard to identify in infants.

23 Aug 2017

Review suggests need for improved treatment outcome measures in clinical trials for FXS

A group of researchers from several institutions in the USA, including Johns Hopkins Medicine, reports that its review of 22 clinical trials of fragile X syndrome (FXS) suggests the need for a wider use of newer and improved treatment outcome measurement tools for this and other several neurodevelopmental disorders.

13 Jun 2017