The stubborn lack of treatments for fragile X syndrome — a leading cause of inherited intellectual disability and autism — is spurring researchers to revise clinical trial techniques and revisit old drug candidates.
Steve Warren co-discovered the genetic mechanism that underpins fragile X syndrome and was a generous, inspiring mentor to many.
Brain cells from the cerebellums of mice that model tuberous sclerosis show dampened levels of proteins controlled by FMRP, the protein missing in fragile X syndrome.
Elizabeth Berry-Kravis has spent decades uncovering molecular clues to fragile X syndrome and crafting trials of treatments. Her efforts are paying off.
People with particularly low levels of FMRP, the protein lacking in those with fragile X syndrome, are more likely to also have autism and severe intellectual disability.
Plugging a leaky mitochondrial membrane may help fragile X neurons to mature and function more efficiently.
Some traits of fragile X syndrome may be due to problems with mitochondria, the cell’s energy factories.