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 (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.
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.
Fragile X syndrome, or FXS—a principal genetic cause of autism—impacts around one in 6,000 females and one in 4,000 males.
Scientists from Rutgers University linked the genetic disorders Fragile X and SHANK3 deletion syndrome to walking patterns.
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.
Using single-molecule imaging, scientists have compared the CRISPR-Cas9 and TALEN genome editing tools.
Primary cilia are structures that act like antennas for cells to identify signals and occur less in mice affected by Fragile X syndrome since birth.
Researchers have shown that mutations in four distinct genes that lead to Kleefstra syndrome.