As the Director of Medical and Adult Services at the Emory Autism Center, Dr. Cubells’ primary goal is to identify molecular and genetic factors that contribute to neurodevelopmental and behavioral disorders. As a clinician-scientist, his research covers behavioral, functional, and molecular studies of adults with autism-related developmental disorders.
Genetic polymorphism is a key genetic explanation of variations at the species and organismal level. Specifically, single nucleotide polymorphisms (SNP’s) have been known to explain genetic variation even within the same species. Researchers have been studying the genetic basis of our ability to recognize individuals from our same species and develop social memory. Social recognition and memory are crucial and often impaired in those with autism-related development disorders.
Often, researchers studying autism-related disorders use primates and other complex model organisms that have complex social interactions and behaviors such as pair bonding. However, the ability to form social memories is the key to pair-bonding and bonding with offspring. Researches around the globe collaborated in this study to discover the importance of neuropeptides oxytocin and arginine-vasopressin in the development of social recognition in rodent species, primates, and humans.
Specifically, the key genetic marker is the polymorphism in the oxytocin receptor gene. Oxytocin is a peptide hormone that is produced in the hypothalamus that is released in response to the stretching of the cervix and uterus during labor and during breastfeeding. It is critical in social bonding, sexual reproduction, childbirth. Now, researchers have found evidence linking this gene and the oxytocin hormone to social memory and recognition.
This research not only provides genetic insight and explanation for social behaviors but also demonstrates a high level of cooperation and collaboration between researchers across the globe. With the common goal of understanding the genetic circuits behind social behaviors, researchers work to contribute to our knowledge of autism-related development disorders.
Again, it is of most importance to understand the complexity of different phenotypes and behavioral characteristics that fall under the term "Autism". This research, despite its novel insights on genetic polymorphism, lacks the connection between a single genetic polymorphism and a wide range of different manifestations of the "lack of ability to communicate and interact". Thus, it is important that we are mindful of the complexity and multi-dimensional nature of the issue at hand.