Autism and Genetics

GWUMC's Dr. Valerie Hu is the lead author on three recently-published articles on the genetics of autism. Dr. Hu is a professor in the Department of Biochemistry and Molecular Biology. Her research interests focus on a systems biology approach to diagnosis, understanding, and treatment of autism spectrum disorders.

In Gene expression profiling of lymphoblasts from autistic and nonaffected sib pairs: Altered pathways in neuronal development and steroid biosynthesis, Dr. Hu describes a research project which compared cell lines from sibling pairs in which one sibling is affected by autism and the other sibling is not. Using DNA microarray analyses, Dr. Hu identified differences in the biochemical and signaling pathways which may help determine the pathogenesis of autism.

Dr. Hu examined an issue related to the heterogeneity of autism in the paper Novel clustering of items from the autism diagnostic interview-revised to define phenotypes within autism spectrum disorders. In this paper, Dr. Hu describes how she and her colleagues used data from an autism diagnosis instrument in order to identify relevant genetic data. The diagnostic information and the genetic data of nearly 2,000 individuals were used to identify sub-groups for which gene expression analysis can be conducted.

In another article, Gene expression profiling differentiates autism case-controls and phenotypic variants of autism spectrum disorders: Evidence for circadian rhythm dysfunction in severe autism, Dr. Hu and her colleagues compared the clinical presentation of autism with gene expression data. In this study, individuals were divided into sub-groups according to the severity of autism. By linking genetic data with the severity of autism, Dr. Hu was able to identify genes which were expressed across the sub-groups as well as genes which were expressed in specific sub-groups.

References

• Hu, V. W., Nguyen, A. T., Kim, K. S., Steinberg, M. E., Sarachana, T., Scully, M. A., et al. (2009). Gene expression profiling of lymphoblasts from autistic and nonaffected sib pairs: Altered pathways in neuronal development and steroid biosynthesis. PLoS ONE, 4(6).
• Hu, V. W., & Steinberg, M. E. (2009). Novel clustering of items from the autism diagnostic interview-revised to define phenotypes within autism spectrum disorders. Autism Research, 2(2), 67-77.
• Hu, V. W., Sarachana, T., Kyung, S. K., Nguyen, A., Kulkarni, S., Steinberg, M. E., et al. (2009). Gene expression profiling differentiates autism case-controls and phenotypic variants of autism spectrum disorders: Evidence for circadian rhythm dysfunction in severe autism. Autism Research, 2(2), 78-97.