In the study of Autism, it was found out that spontaneous mutation in the genes has a significant impact on the disease. As a result of this, researchers all over the world continue to study the gene mutation.
Scientists and medical doctors continue to search for knowledge as to how these mutations affect people diagnosed within the spectrum.
The results of the study were published in Nature Genetics on May 27 of this year. It reflects the first look at how noncoding genetic mutations impact the genome of people in the autistic spectrum. Many teams of researchers have dedicated their time and knowledge in putting together the sequenced DNA of autistic people for the past three years, both between and within the genes. However, it may have seemed impossible for them to go through hundreds of thousands of possible mutations between genes that little knowledge is gotten out of the genetic segments.
The new study has overcome this challenge by using the machine-learning approach. The researchers created an algorithm that identifies whether a noncoding mutation alters the expression of the genes. A score is assigned to each mutation, and that is where they base the final decision of whether the gene will be helpful or harmful.
'We used a rather unique approach, different to just the counting of the genetic mutations. We used a framework that is dependent on deep-learning to look into the regulatory impacts of these mutations," said Olga Troyansakya, co-author of the study. He is also a professor of integrative genomics from the Princeton University in New Jersey. "All gene mutations were not made equal which only means their effects are not created equal as well.
This study has proven its strength by showing how the mutations focused on certain regions, often those that are closest to the genes, as noted by Xin He, a genetics professor from the University of Chicago who also took part in the study.
"Genome-wide, you can see a clear signal. That's just impressive," He said.
There will be more research studies to do to cover what this study has started, but experts believe that what this study presents is significant in finally understanding what's in the genes that changed that brings about autism. Such understanding will help therapists, parents, and teachers to deal with patients with autism.
The learning will never stop. As we wish to provide these people with the help they need, our desire to understand them will create a bridge that will connect the gap. This research is only the beginning, and there will be more.
