Fragile X Syndrome

A look at some noteworthy scientists who died this year, leaving behind a legacy of research excellence.

Caskey’s contributions to the field were instrumental to modern genetics.

He famously identified the genetic mutation that causes the condition in 1991.

The Trump administration’s changes to policy involving material donated from abortions have led scientists to adjust their research projects or seek alternative sources of funding.

Despite a solid understanding of the biological basis of fragile X syndrome, researchers have struggled to develop effective treatments.

Variation in the number of CGG repeats in the FMR1 gene at the bottom of the X chromosome can lead to increased levels of mRNA or decreased levels of protein—both conditions that cause disease.

Researchers examine the effects on the fruit fly intestine of the protein responsible for Fragile X syndrome in humans. 

Researchers uncover the central role of a protein linked to Fragile X Syndrome in mice, one of the leading causes of autism and intellectual disability.

In Fragile X syndrome—a genetic mishap that results in cognitive delays—the lack of a translation-repressing protein leads to the rampant accumulation of other proteins in the mouse brain.

The protein encoded by the gene that causes Fragile X in humans partners with another protein, dNab2, to alter gene expression in fruit fly neurons.

Defects in TOP3β may lead to neural development problems in people with fragile X syndrome and schizophrenia.