Researchers with the biggest whole genome autism study that has ever been conducted recently used the largest supercomputer in the world to create analyses of whole genomes from 200 families.
This study, part of the Autism Speaks MSSNG project, showed how genetics and autism are connected. Genetic changes begin in the egg, sperm and embryo.
“These findings advance our efforts to improve diagnostics and precision healthcare for autism,” Mathew Pletcher, Autism Speaks interim chief science officer and co-author of the report, said. “There’s so much about the causes of autism that we would miss if we focused only on the gene-coding regions of the genome. This demonstrates again why whole genome sequencing is so important.”
Earlier studies suggested that mutations within the sperm and egg could cause autism due to brain development. This study used 600 fully sequenced genomes to show that there are connections between the genes and autism.
“These findings represent a step toward better understanding the interplay between the genetic and non-genetic factors that contribute to autism risk,” Dr. Stephen Scherer, one of the lead researchers, said. “But we need to analyze many more whole genomes -- such as the number being sequenced through MSSNG -- to fully understand these intriguing findings.”
