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Young Researcher Tackles Link between Genes and Autism

Guest post by Rui Luo, recipient of an Autism Speaks Dennis Weatherstone Predoctoral Fellowship and a graduate student at UCLA's  David Geffen School of Medicine.

I am so grateful to have received a Weatherstone Fellowship to support my research on genetic causes of autism. I just published my study in The American Journal of Human Genetics. The study links changes in gene activity, or expression, with DNA mutations that are potentially associated with autism.

I have been interested in brain development for a long time. When I heard a lecture given by Daniel Geschwind, M.D., Ph.D., here at UCLA, I became intrigued by autism. He showed a video of children with autism, and I thought how great it would be if I could do something to make their lives better. So I joined Dr. Geschwind's lab and launched my autism research. 

I decided to focus on identifying the genetic causes of autism because results can potentially help diagnose and treat individuals with autism. I hope that one day my research can help to ease some of the difficulties that individuals with autism face.  

Prior studies have found dozens of rare genetic changes to be associated with autism spectrum disorder (ASD). However, it's not yet known whether or how these rare changes actually cause autism since not all mutations influence gene activity. In our previous study, we identified several DNA abnormalities called copy-number variants (CNVs) that have been associated with ASD.

To better understand their association with autism, I designed a study to discover how genetic changes like these CNVs might affect gene expression. We studied the genetic information contained in blood samples from 244 families in which one child was affected with an ASD and the other was not. We looked for changes or differences in gene expression, a signal that there may be an associated genetic mutation. We found genes in these regions to be misregulated in ASD children, as compared with their unaffected siblings. Among genes associated with nervous-system function, there were more genes expressed at higher or lower levels in the children diagnosed with autism than in their siblings.

We need to reproduce these findings in a larger study. And we hope that identifying these genetic differences can eventually lead to the development of medications to treat ASD.

The Weatherstone fellowship has supported my research in multiple ways. It has allowed me to continue to work as a researcher and in addition, it provided me with the opportunity to attend the IMFAR conference where I was able to discuss my study with experts in the field of autism and received great suggestions about my research. Thanks so much to Autism Speaks and its wonderful community of supporters. 

Explore more of Autism Speaks career-launching fellowship projects here.

The Autism Speaks blog features opinions from people throughout the autism community. Each blog represents the point of view of the author and does not necessarily reflect Autism Speaks' beliefs or point of view.