A recent study has analyzed DNA from thousands of patients, discovering clues to which gene networks may play the most important roles in Autism development. These networks may serve as targets for drug development to possibly treat Autism disorders.
The study was lead by Dr. Hakon Hakonarson, Director of the Center for Applied Genomics at the Children’s Hospital of Philadelphia, and member of the ICare4Autism Advisory Council. Dr. Hakonarson states, “Neurodevelopmental disorders are extremely heterogeneous, both clinically and genetically. However, the common biological patterns we are finding across disease categories strongly imply that focusing on underlying molecular defects may bring us closer to devising therapies.”
Dr. Hakonarson and his colleagues conducted a genome-wide association study, comparing more than 6,700 individuals with ASD with over 12,500 individuals in a control group. This study was one of the largest studies of copy number variations (CNV), duplications or deletions of DNA sequences, ever conducted. The team focused on CNVs within defective gene family interaction networks (GFINs), disrupted genes acting in biological pathways. The team found three GFINs in patients with Autism, in which the gene variants disturb how genes interact with proteins.
The research team also studied the metabotropic glutamate receptor (mGluR) signaling pathway, which affects a major chemical messenger in the brain that regulates functions such as memory, learning, cognition, attention and behavior. In Autism and other neurodevelopmental disorders, common gene variants often have very small individual effects, while very rare gene variants exert stronger effects. Furthermore, the genes with very rare defects belong to gene families that may serve as targets for treatment.
“Even though our own study was large, it captures only about 20 percent of genes causing ASDs,” states Dr. Hakonarson. He continues, “However, strong animal data support an important role for the glutamate receptor pathway in socially impaired behaviors modeling ASDs. Because the GRM pathway seems to be a major driver in three [disorders]— Autism, ADHD and schizophrenia—there is a compelling rationale for investigating treatment strategies focused on this pathway.”
The ICare4Autism International Conference will be discussing additional medical research studies in NYC on July 1st. Speakers include Dr. Eric Hollander, Chairman of the ICare4Autism Advisory Council, and Director of the Autism and Obsessive Compulsive Program, Albert Einstein College of Medicine and Montefiore Medical Center. Dr. Hollander will be giving a fascinating presentation on personalized therapeutics for ASD, as well as lead a question and answer session. To hear Dr. Hollander speak, please select tickets here. Early bird ticket specials are still available, so there’s no greater time than now to register! This is an Autism conference that you will not want to miss!