The Genetics of Autism

Chemistry & Biology, Vol. 11, 1325–1326, October, 2004, 2004 Elsevier Ltd. All rights reserved.

DOI 10.1016/j .c he m bi ol . 20 04 . 10 .0 0 1

Innovations

The Genetics of Autism

It has been more than 50 years since

autism was first identified, but its

cause remains a mystery. Some experts believe the disorder is increasing in incidence, but others believe

the number of diagnosed cases is on

the rise—and increasing from 10–17

percent per year—because of advances in autism awareness, diagnosis, and/or classification. Currently, two to six children per 1,000

in the United States have an autism

spectrum disorder. The spectrum includes severely mentally retarded

individuals with epilepsy and no

speech, classic autism, Asperger

syndrome, and the even milder,

broader autism phenotype. Rare,

but severe, disorders included in the

definition are Rett syndrome and

childhood disintegrative disorder. Together, approximately 1.5 million

Americans live with some form of

autism. Recent research suggests

that 425,000 children under 18 in the

US have an autism spectrum disorder; 114,000 of these are under

age 5.

Autism researchers are moving

to better understand the causes of

the neuropsychiatric disorder by using newly available tools to delve

into the underlying genetics. Currently leading a major discovery

project is the not-for-profit autism

advocacy group, the National Alliance for Autism Research (NAAR)

based in Princeton, NJ, with 45 employees nationwide. NAAR got its

start 10 years ago through funding

provided by parents of children with

autism. According to Andy Shih,

PhD, Chief Science Officer at NAAR,

“Our mission is to support and fund

biomedical research in autism so

that we can develop a better understanding of disease mechanisms

that will hopefully one day enable

delivery of targeted treatment and

eventually cure.”

In summer 2004, the first phase

of the NAAR Autism Genome Project

(AGP), developed and facilitated by...