Identification and validation of biomarkers in autism using adult stem cells and iPS cells

Funding Type: 
Basic Biology IV
Grant Number: 
ICOC Funds Committed: 
Public Abstract: 

Currently, approximately one child out of 100 suffers from autism or one of several autism-related diseases, clustered under the umbrella term autism spectrum disorders (ASD). Although described 70 years ago, very little is known about the causes of ASD and there is an urgent need to find biological tests that could help clinicians to unambiguously diagnose, at an early age, the various subtypes of ASD. In order to unveil the initial events that trigger brain mal-development, we chose to study the primordial cells, i.e. undifferentiated stem cells. We first collected one of the most accessible stem cells in the adult body, the nasal olfactory stem cell (OSC). We set up a bank of olfactory stem cells from 11 ASD patients and 11 age- and gender-matched healthy individuals and found a misexpression of a gene involved in neurotransmission. We propose now to go further on our journey in time by transforming OSCs into embryonic-like stem cells, named OSC-iPS. Using cutting edge molecular biology tools, we will compare both populations of stem cells, hoping to find new risk factor candidates. Then, we will turn OSC-iPS into neural stem cells (OSC-iPS-NSC) and then into neurons in order to assess the defects that altered the trajectories of the developing brain. If successful, this study should help to establish new molecular player(s) and potential biomarker(s) for a syndrome that greatly suffers from a lack of recognized molecular signatures.

Statement of Benefit to California: 

According to the Autism in California 2012 Survey, "California continues to lead the nation in the highest number of individuals with Autism Spectrum Disorders (ASD)… there are at least 72,000 individuals living in California with a form of ASD." The rise in prevalence has dramatic incidence on family welfare but also on state budgets since California Governor Jerry Brown signed in 2009, a piece of legislation that will require health plans to include coverage for autism as a medical benefit. ASD treatments are costly, upwards of $70,000 a year. It is therefore of major importance to identify biomarkers for this syndrome, unveil some of the causes that trigger brain mal-development and, as a result, develop preventive treatments. The goals of our research program will address the underlying mechanisms for ASD and, in the long run, have potential for alleviating pain and suffering of the patient population and their families as well as decrease the financial burden to the patients’ families, private insurers and state agencies. Benefits will also accrue to California through technology transfer to California institutions. Our research program is likely to result in licensing of further technology to the corporate sector. This will have an impact on boosting the competitiveness of our state’s technology sector. Finally, because of the translational nature of the proposed research, our findings should have an impact on biotechnology and/or pharmaceutical companies in California.