Stessman Lab Research
The identification of causal genes in autism spectrum disorder (ASD) has been historically difficult due to both genotypic and phenotypic heterogeneity among patients. The study of sporadic ASD families by both whole exome and targeted sequencing studies has provided many strong candidate genes that show an excess of burden in patients versus controls. Strongly associated clinical phenotypes have led us to define many of these genes as putative “genetic subtypes” of ASD. However, we still have very little understanding of how many of these genes contribute to brain development and function.
The major objective of our current work is to determine the functional relevance of ASD-linked genes moving beyond genetic subtypes to better understand the biology of ASD and to develop novel treatment strategies.
We are focused on the ASD-linked gene, KMT5B - a known lysine methyltransferase.
Only mutations in KMT5B, not KMT5A or KMT5C, have been associated with ASD
suggesting that it is important in social patterning of the brain.
suggesting that it is important in social patterning of the brain.