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.

New tool helps measure communication development in youth with Down syndrome

Expressive language sampling (ELS) is a useful tool for measuring communication development in youth with Down syndrome, a new multi-site study has found.

8 Apr 2021

Metabolic dysfunction found in mouse models of neurodevelopmental disorders

Mouse models of neurodevelopmental disorders possess unique, sex-specific metabolic dysfunctions, according to a new study in eNeuro.

1 Apr 2021

UVA researcher developing innovative gene therapy to help children with Rett syndrome

A University of Virginia School of Medicine scientist is developing an innovative gene therapy she hopes will slow disease progression and improve movement, coordination and communication in children with Rett syndrome.

17 Mar 2021

Researchers find new way to prevent attention deficits associated with Fragile X syndrome

Mount Sinai Researchers find a new way to prevent attention deficits associated with Fragile X, a leading genetic cause of autism, in an animal model.

8 Mar 2021

Study: TALEN is five times more efficient than CRISPR-Cas9 in tightly packed DNA

Researchers used single-molecule imaging to compare the genome-editing tools CRISPR-Cas9 and TALEN.

27 Jan 2021

Researchers discover mechanisms underlying learning and memory formation in the brain

Seeking an answer, researchers at CHU Sainte-Justine Hospital and Université de Montréal have made a major discovery in understanding the mechanisms underlying learning and memory formation.

26 Aug 2020

Mice born with Fragile X syndrome have fewer cell antennas

Structures called primary cilia - which act like TV antennas for cells to detect signals - are present in fewer numbers in mice born with Fragile X syndrome, according to researchers from The University of Texas Health Science Center at San Antonio.

30 Jul 2020

Researchers solve the mystery of genetic defect in horses

Warmblood fragile foal syndrome is a severe, usually fatal, genetic disease that manifests itself after birth in affected horses.

16 Jul 2020

Breakthrough discovery could lead to treatment of Fragile X syndrome

Scientists at the Hotchkiss Brain Institute, Alberta Children's Hospital Research Institute, and Owerko Centre at UCalgary's Cumming School of Medicine have made a breakthrough discovery that could lead to treatment of Fragile X syndrome, the leading genetic cause of Autism Spectrum Disorder.

2 Jun 2020

Gene mutation linked to MEF2C haploinsufficiency syndrome

A collaboration between scientists at the Medical University of South Carolina and clinicians at the Greenwood Genetic Center has yielded new findings about how a particular gene might regulate brain development.

19 May 2020

Scripps professor receives Research Program Award for advancing RNA-targeting medicines

In recognition of his high-impact work advancing the field of RNA-targeting medicines, the National Institute of Neurological Disorders and Stroke (NINDS), part of the National Institutes of Health, has awarded Scripps Research Chemistry Professor Matthew Disney, PhD, a prestigious Research Program Award, to aid Disney's development of treatments for incurable diseases such as Alzheimer's, Parkinson's, ALS and frontotemporal dementia.

4 May 2020

Study: Behavioral intervention is effective in treating language problems in youth with FXS

A UC Davis Health study found more evidence for the efficacy of telehealth-delivered behavioral intervention in treating language problems in youth with fragile X syndrome (FXS).

21 Apr 2020

Genetic mutation found to improve cognitive flexibility in mice

Researchers at the National Institutes of Health have discovered in mice what they believe is the first known genetic mutation to improve cognitive flexibility--the ability to adapt to changing situations.

27 Mar 2020

New test to measure expressive language skills of people with Fragile X syndrome

Researchers have developed a test to measure the expressive language skills of people with Fragile X syndrome, a genetic disorder that may result in intellectual disability, cognitive impairment and symptoms of autism spectrum disorder.

25 Mar 2020

ELS can be useful in measuring outcomes for treatment studies in intellectual disabilities

A multi-university team of researchers found that expressive language sampling can be useful in measuring outcomes in clinical trials targeting fragile X syndrome.

24 Mar 2020

Study reveals the neural basis of sensory hypersensitivity in people with autism

Many people with autism spectrum disorders are highly sensitive to light, noise, and other sensory input. A new study in mice reveals a neural circuit that appears to underlie this hypersensitivity, offering a possible strategy for developing new treatments.

2 Mar 2020

Fragile X syndrome-causing repeats help human neurons function, study finds

Over half of our genomes are made of repeating elements within DNA. In rare cases, these repeats can become unstable and grow in size. These repeat "expansions" cause neurodegenerative diseases such as ALS and dementia as well as learning disorders and autism in Fragile X syndrome.

17 Feb 2020

Link between autism and poor cognition

Autistic people are often brilliant, but they may also have poor cognitive skills. The relationship between autism and either condition, inside the brain, has been far from clear. However, now a new study shows that poor cognition in autism could be due to the influence of a small gene fragment.

29 Jan 2020

Non-invasive electrostimulation of the vagus nerve improves memory in mice

Researchers at UPF are testing a new non-invasive method of stimulating the vagus nerve in mice that improves their memory.

28 Jan 2020

UC Davis MIND Institute provides care for those born with fragile X syndrome disorder

Fragile X syndrome is a debilitating genetic neurodevelopmental disorder that affects people worldwide, but many doctors don't know anything about it, let alone have the resources to properly diagnose or treat it.

24 Jan 2020