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.

Targeting NMDA Receptor Subunit Shows Promise for Fragile X Syndrome

Building on more than two decades of research, a study by MIT neuroscientists at The Picower Institute for Learning and Memory reports a new way to treat pathology and symptoms of fragile X syndrome, the most common genetically-caused autism spectrum disorder.

21 Feb 2025

Study Unveils Surprising Cause of Brain Cell Death in Huntington's Disease

Scientists at the Broad Institute of MIT and Harvard, Harvard Medical School, and McLean Hospital have discovered a surprising mechanism by which the inherited genetic mutation known to cause Huntington's disease leads to the death of brain cells.

17 Jan 2025

Bumetanide Treatment Alters Early and Late Social Behaviors in Fragile X Mice

In a comprehensive Genomic Press Interview, researchers from the University of Texas Health Science Center at San Antonio and Hirosaki University have uncovered critical new insights into the developmental trajectory of social behaviors in fragile X syndrome, the leading genetic cause of autism spectrum disorder.

30 Dec 2024

Unlocking the Mysteries of Repeat Expansion in Genetics

Research led by scientists at Queen Mary University of London is heralding in a new era for genetic sequencing and testing.

3 Oct 2024

Shaping the Brain: Experience-Dependent Plasticity in Development, Learning and Memory

Explore the groundbreaking work of Mark Bear, a leading figure in neuroscience, as he shares insights on synaptic plasticity, learning, and the future of neurological research.

12 Jun 2024

Novel Drug Compound Reduces Sensory Hypersensitivity in Fragile X Mice

Boosting the activity of inhibitory interneurons in Fragile X mice reduced their hypersensitivity to sensory stimuli, according to a new Neuron study led by UCLA Health researchers.

14 Jul 2023

Stimulating Cell DNA Repair Processes to Combat the Root Cause of Autism Spectrum Disorders

A new treatment option has been discovered for fragile X syndrome, which is the most common genetic cause of autism spectrum disorders and is defined by a hereditary repetition of certain nucleotides in the DNA sequence of the FMR1 gene. Researchers at Massachusetts General Hospital (MGH) carried out the study, which was published in the journal Cell.

22 May 2023

The Relation Between an Autism Gene and Infertility

The biological foundations of a reproductive disease caused by a DNA mutation have been discovered by a University of California, Riverside study. Fragile X Syndrome, a major genetic contributor to cerebral impairment and autism, is also caused by this gene mutation.

5 Apr 2023

RNA targeted by small molecule drugs, likely to create new pathways for disease treatment

RNA (ribonucleic acid) is involved in many aspects of human health, and a new study published in the journal Nature provides compelling evidence that RNA could be a promising pharmacological target.

1 Apr 2022

Novel DNA test helps diagnose neurological and neuromuscular genetic diseases

The Garvan Institute of Medical Research came up with a new DNA test that helps determine a range of hard-to-diagnose neurological diseases faster.

7 Mar 2022

Study employs gene reactivation to treat Fragile X syndrome

Fragile X syndrome, or FXS—a principal genetic cause of autism—impacts around one in 6,000 females and one in 4,000 males.

17 Dec 2021

Study analyzes walking movements to detect nervous system disorders

Scientists from Rutgers University linked the genetic disorders Fragile X and SHANK3 deletion syndrome to walking patterns.

From Rutgers University 26 Oct 2021

“Expansion Hunter” approach can detect DNA errors

Researchers from Radboud University Medical Center have successfully detected hidden genetic defects by using an existing technique on existing datasets. The team demonstrated that the “Expansion Hunter” approach can detect DNA errors that cause repeat expansion diseases, like ataxia—a movement disorder.

16 Apr 2021