By Ashley Chang, Genetics ’15

Biostatisticians led by Knut Wittkowski at Rockefeller University Hospital have employed new methods of genome-wide association studies to identify genes that they believe to be associated with autism. The researchers compared genomes of patients with varying degrees of autism to healthy patients and were able to identify genetic variations that seem to be linked to the pathology of neural development in young children. The technique used to identify these genes is unique. Rather than traditional genome association, which searches for single nucleotide polymorphisms (SNPs), this new method looks for combinations of several SNPs that are common in patients with a disease. Wittkowski also compared this new autism profile to patients with childhood epilepsy and found mutations in similar genes that control axonal guidance and calcium signaling. Both of these are important in the developing brain to ensure that the correct connections are made. (more…)