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.
Over the past century, scientists have used a variety of animal models to advance their understanding of the developing brain and autism.
In the past two decades, some autism researchers have turned to simple animals, such as roundworms, fruit flies and zebrafish, for their investigations. Others have sought answers from experiments with frogs, birds and even octopuses.
Most autistic people do not receive the medically recommended genetic tests for autism. Brenda Finucane and her colleagues want to change that.
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.
As treatments for some autism-linked genetic conditions inch closer to the clinic, researchers are talking more urgently about screening all newborns for such conditions.
Investigational drugs that inhibit an overactive enzyme could partially normalize how brain cells mature in boys with 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.
A drug that prevents an enzyme from breaking down a key molecule involved in learning and memory improved cognition and behavior in a small study of men with fragile X syndrome.
When autism researcher Clare Harrop tried to recruit survey participants over social media, she received hundreds of fraudulent responses. But there are ways researchers can protect themselves from similar experiences.