The primary mission of our lab is to develop and apply new technologies at the interface of genomics, molecular biology and developmental biology.
Most genetic variants that contribute to the risk or severity of common and rare diseases fall in regions of the human genome that control the expression of genes, rather than in the genes themselves. Although we have learned the hallmark characteristics of such “enhancer” regions, it has been exceedingly difficult to pinpoint which genetic variants within them are disease-contributory and which gene(s) they act through.
We have been working on implementing and advancing stem cell models of development, including gastruloids and embryoid bodies, and implementing multiplex CRISPR-based screens in them in order to identify regulatory elements and variants that may impact development.