Human Genetic Disease and Genetic Engineering

XIST transgenes can silence an autosome into which that are integrated

chrm4The size of the full length genomic XIST transgene integrated into chromosome 4 (above) is ~35kb. However the full length 15kb cDNA works as well and we are currently testing the ability of a smaller 6.8kb transgene to silence.

 

Zinc Finger Nucleases (ZFN) provide highly efficient targeted transgene integration

Chrm19-XistPanel-ideogramUsing ZFN targeting technology we can aim XIST transgenes into different genomic environments and test the silencing capability of different regions (sequence and epigenetic content differences).

iPSC (induced pluripotent stem cells) provide a powerful alternative to human embryonic stem cells (hESC)

AP-DN25-4mouse-iPSmouseiPSwith-oct4
We are making both mouse and human iPS cells to study epigenetic changes in reprogramming and chromosome inactivation. The cells above are colonies of iPSC which we have made from mouse models of human disease.