A boy with a rare skin condition which can cause damage with even the smallest amount of friction has been given hope after taking part in a trial for the first potential treatment for the genetic ...

For 22 years, Jason Mazzola's life was defined by Fragile X, a genetic condition that often causes autism and intellectual disability. Jason, who is 24 now, needed constant supervision. He had ...

Mutations in FMR1, the gene encoding fragile X messenger ribonucleoprotein 1 (FMRP), located at Xq27.3 and discovered in 1991, are the leading single-gene causes of autism and intellectual disability.

A new study shows that enhancing activity of a specific component of 'NMDA' receptors normalizes protein synthesis, neural activity and seizure susceptibility in the hippocampus of fragile X lab mice.