The choreography of development is a delicate dance. Beginning in utero, chromosomes, DNA, genes and RNA twirl, tap, and sashay their way in a precise pattern. A misstep or a missing step that changes the routine causes body and brain functions to go awry – as is the case with
many intellectual and developmental disabilities (IDD). Fragile X syndrome is the most common known single-gene cause of inherited IDDs, including autism. Scientists know the misstep in this syndrome is in the gene FMR1. FMR1 is responsible for making the protein FMRP, which is necessary for typical brain development.
DISULFIRAM TREATMENT FOR VISION IMPROVEMENT
Animal and cell studies show that as retinal cells die in degenerative eye diseases, they make other cells hyperactive, creating noise that further obscures vision. Tests to prove this in humans are hard to conduct, however. Antabuse, an approved drug used to wean people off alcohol, should tamp down this hyperactivity and conclusively show whether hyperactivity plays a role in humans, potentially driving work to find better drugs to help those with progressive vision loss.