Autism can be overwhelming to a family, and we as a nation have begun to bear witness to its very personal costs -- parents’ anxieties, chasing false hope with pseudo-science, and desperately looking for a way to connect with their children. But what if researchers found a way to develop drugs that could result in stopping the disorder? Researchers at the University of California, Irvine Center for Autism Research and Translation, or CART, are determining the mechanisms by which malfunctioning genes affect the common pathways implicated in Autism Spectrum Disorder (ASD) in order to design and carry out cellular screens to test the effects and treat the core defects. By beginning with drugs that can normalize diverse molecular bioassays of diverse ASD samples, researchers at CART are making strides towards developing new targets and drugs that can attack the novel mechanisms for the treatment of these disorders. With over 50 faculty members drawing upon a wealth of diverse expertise and technologies in addition to real-world clinical goals, CART hopes to achieve its vision of “abolishing current and future burdens of autism through discovery and implementation of novel care, so that not a single child is lost to autism.”

The role of CART is particularly important today because pharmaceutical houses have abandoned drug discovery in neurobehavioral disorders since animal models have failed to predict drugs that work in patients. In contrast, CART has developed a step-by-step set of overlapping techniques anchored to the causal genetic lesions in ASD to assure that when behavioral assays are reached, they are securely anchored in the core human disease pathophysiology. The Rapid Discovery Platform (RDP) at CART is an innovative drug discovery effort that unites multidisciplinary research scientists under a common goal of developing an effective pharmaceutical therapy for the core deficits of ASD. Using the RDP process, pharmaceutical companies can quickly and accurately identify targets for therapeutic solutions, saving time, money, and lives. CART’s enhanced ability to determine how and where experimental compounds act on the molecular mechanisms of the brain is a unique strength that maintains its role on the cusp of being able to provide hope in treatment for individuals with ASD.

Current research includes:

• Pharmaceutical Research: Recently, researchers have found a treatment for Cystic Fibrosis (CF) that was approved by the FDA. CART has set an entirely new paradigm for how to get FDA approval for powerful drug discovery for ASD, similar to the methods used for the CF compound. CART currently has a patent being reviewed on a biomarker that will allow them to do so.

• Core Research: Understanding the function of genes involved in ASD lies at the heart of CART research exploration. Identifying these genes will provide targets for diagnostic tests as well as model organisms for drug discovery and environmental impacts. Each core area provides a comprehensive, interactive base, each focus providing ongoing discovery information to the others in order to advance the understanding in all researchers.

• Genomics: Research is conducted to uncover the dysfunction of known ASD genes and looks for new ones in patients by conducting in-depth whole genome sequencing at a speed and accuracy that has not been achievable before. The goal is to identify pertinent malfunctioning genes.

• Brain and Behavior: The identification of genomic irregularities in structure or cell communication, coupled with the understanding of the implications they have within the neurological system, can translate into preclinical and clinical investigations of new drugs based on biomarkers. Studies including the Autism Diagnostic Observation Schedule, IQ testing, sleep observations and High-density Electroencephalography (EEG) are used to marry key genetic markers with behavioral pattern observations.

• Biorepository: Researchers acquire or build compounds targeted at consequences and network defects providing genetic material for all other CART research areas to use for testing without the controversial use of embryos, an important advance in iPS stem cell research. These existing human cells or neurons derived from stem cell techniques, such as iPS, can be compared with established mouse models of rare single-gene forms of ASD.