New genomics research on abnormal brain development

Local researchers are finally on the road to developing targeted treatments for serious, life-long disabilities such as autism and schizophrenia, thanks to new genomics research focusing on abnormal brain development.

With funding from Genome British Columbia, Dr. Daniel Goldowitz of the UBC Department of Medical Genetics and the Centre of Molecular Medicine and Therapeutics, is opening the mysterious world of the developing brain by mapping the genes in the cerebellum and studying which genes influence abnormal development.

The $330,000 (CDN) project, Functional Characterization of the Transcriptional Network Driving Mammalian Brain Development, will determine which genes are activated and essential during brain development so researchers can better understand development-related diseases such as autism spectrum disorder, schizophrenia and fragile X mental retardation. One key to understanding these disorders lies in the study of a region of the brain that has been difficult to map, the cerebellum.

If the researchers can identify key genes involved in the early development of the cerebellum and that influence the rest of brain development, they may be able to encourage or restart plasticity, the brain's ability to heal and change. These discoveries are anticipated to lead to new drugs and cognitive treatment for people with abnormal brain development.

"All of our incoming sensory information is received by the cerebellum where it can be compared and contrasted," says Goldowitz. "So you can imagine if there is a mismatch between information coming in and going out - that there would be a serious problem. You might create another world to try and help you cope like with schizophrenia, or within autism you might shut down incoming information to cope."

"Our long term goal would be to develop tools for early diagnosis of, and possible therapies for brain disorders such as autism," says Goldowitz. Increased knowledge and understanding of the genetic wiring of the cerebellum will also open the door to new therapeutics for deadly childhood brain cancers.

Working in close collaboration with Dr. Harukazu Suzuki and colleagues at the world-renowned RIKEN Institute in Japan, the researchers will use cutting-edge genomic technology to identify gene regulatory networks, which control how the cerebellum develops.

The partnership with the RIKEN Institute will allow the researchers to capitalize on world-leading genomic technologies to study the gene expressions and interactions of the cerebellum at a level of resolution never before attained.

"Up until now, we couldn't manage the data sets because they were just too large," says Goldowitz. "Through with this international partnership, we should be able to see which genes are turning on other genes so that we can build networks that show the architecture of the developing cerebellum."

"Genome BC is pleased to support this innovative and exciting research in brain development," says Dr. Alan Winter, President and CEO of Genome BC. "This is exciting on many levels. It offers promising new therapies for developmental and neurological disorders and makes practical use of the latest genomic technologies. In addition, it extends BC scientific excellence into new international collaborations with esteemed researchers at the RIKEN Institute in Japan."