Compensating for a faulty gene
Fragile X syndrome is the most common inherited form of intellectual disability. A third of children with fragile X syndrome also have autism or autistic-like behaviors. In 1991, in the first major human triumph of the Human Genome Project, Emory geneticist Stephen Warren led an international team of investigators to identify the gene mutation responsible for fragile X. Warren then discovered the learning and memory protein whose production is affected by the mutated gene.
That discovery allowed him to develop the first diagnostic test for fragile X. It also allowed him to identify compounds that compensate for the missing protein in fruit flies and mice with a fragile-X disorder, causing them to give up their fragile-X behaviors and develop more normal biochemistry and brain wiring. Human drug trials of these compounds are now under way in 15 clinics. Warren's discoveries could change life for those with fragile X syndrome and open the door to drug treatments for other forms of autism.