New Gene Studies Suggest There Are Hundreds of Kinds of Auti

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“What we’ve learned in the last five years about the underlying genetics is that there are hundreds, if not a thousand or more, different genetic subtypes of autism,” says geneticist David Ledbetter, chief scientific officer at Geisinger Health System in Danville, Pennsylvania.

Rather than recruiting people with autism based on outward characteristics, some researchers are turning this flood of genetic information into an advantage: They are classifying children with autism based on their genetics, and thoroughly characterizing each subgroup to map autism’s landscape as a whole. These ‘genetics-first’ studies, including the one in which Waylon and Geoffrey participate, may help researchers to construct a meaningful taxonomy of autism and understand the source of its diversity. Eventually, such studies may even lead to treatments that address the root cause of a child’s autism, rather than just the symptoms.