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 project aims to test a protein-based therapy for Fragile X syndrome

A new research project at the University of California, Riverside, has received funding to investigate whether a novel protein-based therapy can correct abnormal brain activity associated with Fragile X syndrome.

9 Oct 2026

Scientists create brain organoids with distinct cortical regional identity

The human brain is often described as one of the most complex structures in biology, and much of its power comes from how it's organized.

20 Aug 2026

Experimental gene therapy reverses fragile X symptoms in mice

A gene therapy designed to replace the missing protein that causes fragile X syndrome restored several disease-relevant traits in a mouse model, according to a new study published in Gene Therapy.

14 Jul 2026

Brazil launches genetic screening project for prospective parents

In the coming weeks, the Human Genome and Stem Cell Research Center (HUG-CELL) will begin recruiting participants for the "Our Genes" project.

8 Jun 2026

UCLA researchers identify potential drug target for treating Fragile X syndrome

UCLA Health researchers have identified a potential drug target for treating Fragile X syndrome, the most common genetic cause of intellectual disability and autism that affects roughly 1 in 2,000 boys.

18 May 2026

New technology maps protein production across individual brain cells

The brain's ability to carry out everything from forming memories to coordinating movement depends on its cells producing the right proteins at the right time.

18 Feb 2026

Shared brainwave biomarker bridges mouse and human fragile X research

Numerous potential treatments for neurological conditions, including autism spectrum disorders, have worked well in lab mice but then disappointed in humans.

11 Feb 2026

How brain cells manage long distance genetic instructions

Scientists found that messenger RNA (mRNA) molecules that carry genetic instructions to the far reaches of neurons in the brain tend to cluster together mostly because they are abundant, not because they move in coordinated groups.

15 Dec 2025

Restoring pleiotrophin shows promise for improving brain function in Down syndrome

Faulty brain circuits seen in Down syndrome may be caused by the lack of a particular molecule essential for the development and function of the nervous system, new research suggests.

17 Oct 2025

$5.5 million federal grant funds research to improve measurement of FXTAS treatments

UC Davis Health Professor of Psychiatry and Behavioral Sciences David Hessl will help lead a major research project to develop better ways to measure treatments for fragile X-associated tremor/ataxia syndrome (FXTAS).

31 Jul 2025

Reactivating silent genes offers hope for Rett syndrome treatment

Researchers led by UC Davis Health scientist Sanchita Bhatnagar have developed a promising gene therapy that could treat Rett syndrome.

23 Jul 2025

New nanopore sequencing assay advances fragile X syndrome carrier screening

Researchers have developed an innovative new nanopore sequencing assay to identify carriers of fragile X syndrome (FXS), the leading cause of monogenic autism spectrum disorder and inherited intellectual disabilities.

12 Jun 2025

New approach shows promise for treating 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.

20 Feb 2025

Decades of DNA expansion linked to Huntington’s disease neurodegeneration

Researchers uncover how slow CAG repeat expansions in neurons drive Huntington’s disease over decades.

24 Jan 2025

Scientists discover new mechanism behind Huntington’s disease brain cell death

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.

16 Jan 2025

New insights into the developmental trajectory of social behaviors in fragile X syndrome

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.

24 Dec 2024

Motor delays and hypotonia differentiate neurodevelopmental disease patients with and without genetic diagnoses

Researchers identified key clinical factors like motor delays and hypotonia that predict genetic diagnoses in children with neurodevelopmental disorders, creating a decision tree to guide clinicians.

14 Oct 2024

Research heralds in a new era for genetic sequencing and testing

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

1 Oct 2024

Mouse models inform potential treatments for Fragile X, Phelan-McDermid syndromes

Studies of mouse models of Fragile X syndrome and Phelan-McDermid syndrome show that treatment with cannabidiol (CBD) and the diabetes drug metformin can alleviate behavioral difficulties, according to research presented today (Wednesday) at the Federation of European Neuroscience Societies (FENS) Forum 2024.

26 Jun 2024

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