Huda Zoghbi and her colleagues painstakingly sequenced the candidate genes for Rett syndrome, culminating in the 1999 Nature Genetics report that pinpointed six de novo mutations in the MeCP2 gene as the cause of the disorder.
Rare or common, inherited or spontaneous, mutations form the core of autism risk.
Fragile X syndrome is a rare and devastating condition, and a risk factor for autism. New research suggesting the condition is reversible in mice has some wondering whether treatments for the syndrome ― and for some forms of autism ― could be on the horizon.
In 1982, Josh Huang was an impressionable young biology undergraduate at Shanghaiʼs FuDan University. Like some of his fellow Chinese students, he knew he wanted to be a neuroscientist, but with limited access to scientific journals, had no idea which big questions were then at the forefront of research.
Donald T. was not like other 5-year-old boys. Leo Kanner knew that the moment he read the 33-page letter from Donaldʼs father that described the boy in obsessive detail as “happiest when he was alone… drawing into a shell and living within himself… oblivious to everything around him.”
Stylianos Antonarakis still vividly remembers the thorny statistical problem that had vexed him for several months in 1982. Antonarakis, then a postdoctoral fellow at Johns Hopkins University, had turned to his colleagues at Hopkins, but none of them had been able to solve the problem.