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

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

Novel DNA test helps diagnose neurological and neuromuscular genetic diseases

Novel DNA test helps diagnose neurological and neuromuscular genetic diseases

Study employs gene reactivation to treat Fragile X syndrome

Study employs gene reactivation to treat Fragile X syndrome

Study analyzes walking movements to detect nervous system disorders

Study analyzes walking movements to detect nervous system disorders

“Expansion Hunter” approach can detect DNA errors

“Expansion Hunter” approach can detect DNA errors

Study shows TALEN is five times more efficient than CRISPR-Cas9 tool

Study shows TALEN is five times more efficient than CRISPR-Cas9 tool

Novel therapeutics targeting primary cilia may reverse neurodevelopmental disorders

Novel therapeutics targeting primary cilia may reverse neurodevelopmental disorders

Distinct loss-of-function variants cause shared clinical features in neuronal development disorders

Distinct loss-of-function variants cause shared clinical features in neuronal development disorders