Reading the writing on the genome
By Mary Loftus | Emory Magazine | March 7, 2012
“15q11-13.” “16 p11.2.”
Associate professor Christa Lese Martin, operations director of the Emory Genetics Laboratory, and postdoctoral fellow Daniel Moreno De Luca frequently speak in code as part of a team that produced a landmark result in autism genetics.
About thirty-five thousand genes make up the human genome. Martin and Moreno De Luca, along with their colleagues, helped to identify regions of the genome where mutations—in this case, duplications or deletions—exist that are implicated in autism.
About 30 to 40 percent of all autism can be given a genetic diagnosis, says Martin.
“Our study uses routine data from clinical labs to create a centralized database, showing frequencies, genotype, and phenotype data, and other relevant information from children with all different types of developmental disorders,” she says.
The data identified gains or losses on segments of DNA that were common to patients clinically diagnosed with autism.
The team made an intriguing find on a segment of chromosome 7. Deletion of the region is associated with Williams syndrome, in which individuals, although developmentally delayed, often exhibit “striking verbal abilities, highly social personalities, and an affinity for music.” Duplication of the same region, researchers found, is associated with autism.