AsianScientist (Sep. 26, 2014) – Researchers have used a new gene discovery approach to better understand the genetics of developmental delay and autism. The findings, published in Nature Genetics, could lead to new targeted therapies for these conditions.
Copy number variants (CNVs) are associated with many neurocognitive disorders; however, these events are typically large, and the underlying genetic causes are unclear.
A team of scientists including Professor Ingrid Scheffer from the University of Melbourne created a “morbidity map” based on genetic material sequenced from almost 50,000 children, including nearly 30,000 with demonstrated developmental delay. This map identified 70 significant clusters of CNVs, of which 26 candidate genes were re-sequenced in additional cases with developmental delay or autism.
Following this, the team used a combination of CNV and single-nucleotide variant (SNV) data analysis to identify new clinical subtypes of developmental delay or autism.
“Using the integration of different gene discovery techniques, we are getting closer to identifying the fundamental cause of these conditions,” she said. “This is the first study to use such a large data set of almost 30,000 affected children, with this integrative approach to gene discovery to produce a more effective way to find genes.”
“It is the best way to understand the cause of these conditions and is the building block to finding new targeted therapies,” Prof. Scheffer said.
Prof. Scheffer added that the findings would contribute significantly to developing new targeted therapies for autism spectrum disorders, intellectual disability and developmental delay.
The article can be found at: Coe et al. (2014) Refining analyses of copy number variation identifies specific genes associated with developmental delay.
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Source: University of Melbourne
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