Are There Developmental Origins of Autism?

  A relatively recent study conducted by the National Institute of Health on ASD(autism spectrum disorder),  have led researchers to have found several factors that likely contribute to the disorder. However even with certain genetic variations being associated with ASD, researchers still have been unable to identify how these variations shape the development and function of the brain. ASD is a neurological and developmental disorder that encompasses a wide range of symptoms, including but not limited to how people interact with others, communicate, learn, and behave. Symptoms will generally appear within the first two years of life, but can be diagnosed at any age. 

    For this study, researchers investigated the human exome which includes all the exons in the human genome and DNA components that provide instructions for making proteins. While exons only make up roughly 1 to 1.5% of a person's genetic code, they are typically responsible for disease causing mutations. Therefore sequencing an individual's exome can allow researchers to identify certain genetic mutations that are responsible for a disorder/condition. In the context of this experiment, researchers sequenced those with and without ASD to compare their exomes. Data from 35, 584 people was collected, with 11,986 of those people having ASD. The results showed that there was very strong evidence that 26 genes are linked to ASD and another 76 were identified to have correlation to the disorder. Of the 102 genes, 60 had not been linked to ASD before. These findings suggest that there are many more genetic variants associated with ASD than previously thought.

Associations between genetic variation and gene expression of healthy tissues in humans

GTEx or Genotype tissue Expression is a process that aims to answer  why our DNA can create different tissues, that serve different functions. using expression quantitative trait loci mapping. researchers: Michelle C. Ward and Yoav Gilad to study the phenotype and and genotypes of 44 different tissue samples from 449 humans this lead to a myriad of results ranging from different nucleotide sequences, the abstract of the article states that most differences in nucleotide sequences in affected genes happens very close called cis e-QTLs and some trans-e-QTLs that are farther away from the exon of the gene studied. The variations in the introns of these genes and studying the links between them and tissue formation could have an impact on the future of organ transplants.


I believe that eventually that this will have a profound effect on the way that people receive organ transplants , the better we as a society can understand tissue development, the better people who need organ transplants will receive them , if there is a way to match these variations with a living transplant  there could possibly be an end to immunosuppresion drugs for transplant receivers





link 1

link 2