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.

Weill Cornell Medicine researcher wins $2.1 million grant to study repetitive DNA and RNA sequences

Dr. Jeannine Gerhardt, an assistant professor of stem cell biology in obstetrics and gynecology and in reproductive medicine at Weill Cornell Medicine, has received a five-year, $2.1 million grant from the National Institute of General Medical Sciences (NIGMS), part of the National Institutes of Health, for the study of repetitive DNA and RNA sequences and the mechanisms by which they cause cell dysfunction and diseases.

30 Jan 2024

Enlarged perivascular spaces in infancy associated with sleep problems and autism risk

Throughout the day and night, cerebrospinal fluid (CSF) pulses through small fluid-filled channels surrounding blood vessels in the brain, called perivascular spaces, to flush out neuroinflammation and other neurological waste.

2 Jan 2024

Fragile X syndrome may be unfolding in brain cells even before birth

Fragile X syndrome, the most common form of inherited intellectual disability, may be unfolding in brain cells even before birth, despite typically going undiagnosed until age 3 or later.

10 Oct 2023

How SARS-CoV-2 hijacks Fragile X proteins to fuel infection: New clues in COVID-19 and genetic disorders

Study explores the interaction between SARS-CoV-2's non-structural protein 3 (NSP3) and proteins related to Fragile X mental retardation (FMRPs), shedding light on COVID-19 pathophysiology. The research suggests that the virus exploits these host cell proteins for effective infection and possibly interferes with antiviral defense mechanisms, offering new insights into the genetic basis of Fragile X syndrome.

5 Sep 2023

UC Davis MIND Institute receives 24th consecutive year of NIH funding for FXTAS research

It's been 22 years since UC Davis MIND Institute Medical Director Randi Hagerman and her husband, researcher Paul Hagerman, discovered the neurodegenerative condition called FXTAS (fragile X-associated tremor ataxia syndrome).

19 Jul 2023

New therapy to mitigate fragile X syndrome may be on the horizon

An antisense therapy developed by Joel D. Richter, PhD, Sneha Shah, PhD, and Jonathan K. Watts, PhD, at UMass Chan Medical School and Elizabeth Berry-Kravis, MD, PhD, at RUSH University Medical Center, restores production of the protein FMRP in cell samples taken from patients with fragile X syndrome.

5 Jul 2023

MGH researchers identify a potential method for treating fragile X syndrome

New research has identified a potential method for treating fragile X syndrome, a leading cause of autism spectrum disorders that is characterized by an inherited repeat of certain nucleotides within the DNA sequence of the FMR1 gene.

19 May 2023

Biological underpinnings of a reproductive disorder caused by mutation of autism gene

A University of California, Riverside, study has identified the biological underpinnings of a reproductive disorder caused by the mutation of a gene.

5 Apr 2023

Study reveals new clues to the underlying cause of FXS symptoms

In Fragile X syndrome (FXS), the most common cause of autism, sensory signals from the outside world are integrated differently, causing them to be underrepresented by cortical pyramidal neurons in the brain.

17 Feb 2023

SynGAP Research Fund awards $180,000 grant to the University of Edinburgh Medical School's Patrick Wild Centre & Centre for Discovery Brain Sciences

SynGAP Research Fund (SRF), a 501(c)(3) public charity whose mission is to improve the quality of life for SYNGAP1 patients through the research and development of treatments, therapies and support systems, along with SynGAP Research Fund UK, today announced they have awarded a $180,000 grant to the University of Edinburgh Medical School's Patrick Wild Centre & Centre for Discovery Brain Sciences to advance the science around gene transfer to correct SYNGAP1 haploinsufficiency.

5 Jan 2023

NIHTB-CB tests found to be sensitive in detecting cognitive change in people with intellectual disability

A major challenge in testing new therapies for people with intellectual disability is finding accurate tools to measure whether the intervention or medication works.

5 Dec 2022

Study reveals mechanism by which malignant cells shut down anti-cancer immune responses

A Ludwig Cancer Research study has revealed a single protein expressed at high levels by cancer cells across a broad range of malignancies that erects a multifaceted barrier to anti-cancer immune responses in mouse models of cancer and so shields tumors from immune detection and destruction.

20 Nov 2022

Early therapeutic interventions may be effective in treating Fragile X Syndrome

A new study suggests that therapeutic interventions to treat neurodevelopmental disorders may be more effective if done during the early stages of brain development.

1 Sep 2022

Complex molecular dance could inform the development of future treatments for fragile X syndrome

Like many neurological diseases, there's a lot we don't understand about fragile X syndrome. But, after studying the disorder for several years, Lynne Maquat's lab knew two important things: the enzyme AKT, which plays a key role in cell growth and survival, and the quality control pathway known as NMD (nonsense-mediated mRNA decay), are both in overdrive in fragile X.

29 Jun 2022

Amygdala in children diagnosed with autism begins its accelerated growth during infancy

The amygdala- a brain structure enlarged in two-year-old children diagnosed with autism spectrum disorder (ASD)- begins its accelerated growth between 6 and 12 months of age, suggests a study funded by the National Institutes of Health.

25 Mar 2022

New DNA test can quickly and accurately identify a range of hard-to-diagnose genetic diseases

A new DNA test, developed by researchers at the Garvan Institute of Medical Research in Sydney and collaborators from Australia, UK and Israel, has been shown to identify a range of hard-to-diagnose neurological and neuromuscular genetic diseases quicker and more-accurately than existing tests.

4 Mar 2022

Rutgers study links genetic disorders to walking patterns

Rutgers researchers have linked the genetic disorders Fragile X and SHANK3 deletion syndrome – both linked to autism and health problems – to walking patterns by examining the microscopic movements of those wearing motion-sensored sneakers.

25 Oct 2021

Tracking ADHD symptoms, behavior in people with intellectual disability using a smartphone app

A new study by the UC Davis MIND Institute's David Hessl will test whether a smartphone-based app may help improve the accuracy of data in some clinical trials involving individuals with intellectual disability.

8 Oct 2021

Research points to new opportunities to prevent treatment resistance in fragile X syndrome

Mark Bear, Picower Professor of Neuroscience at MIT, recalls the "eureka moment" 20 years ago when he realized that a severe developmental brain disorder -;fragile X syndrome-;might be treated with drugs that inhibit a neurotransmitter receptor called mGluR5.

29 Sep 2021

“Expansion Hunter” method can detect DNA errors that lead to repeat expansion diseases

Detecting hidden genetic defects by applying an existing method to an existing datasets. Researchers at Radboud university medical center have succeeded.

16 Apr 2021