The Manton Center for Orphan Disease Research
Diane H. Cho, PhD
Dr. Diane H. Cho received her B.A. at Princeton University majoring in molecular biology, and her Ph.D. at the Univeristy of Washington’s Molecular and Cellular Biology Program. Her graduate training came from Dr. Stephen Tapscott’s laboratory at the Fred Hutchinson Cancer Research Center in Seattle, Washington where she studied the role of bidirectional transcription across an unstable repeat human disease locus, and demonstrated how local boundary elements and RNAi pathways are involved in establishing differential gene transcription and chromatin structure. She joined Dr. Suneet Agarwal’s laboratory in December 2011 to pursue her postdoctoral studies.
Dr. Cho will investigate how specific telomerase mutations can lead to dyskeratosis congenita by studying patient cells that have been reprogrammed into stem cells. Dyskeratosis congenita is a disease that is characterized by premature aging, increased cancer development and high rates of mortality through bone marrow failure. This disease can be attributed to genetic mutations affecting telomerase, a protein complex that is essential for establishing the interminable self-renewal capacity of stem cells. The latest technology in human genome engineering will be applied to correct the genetic defects and restore telomerase function in the patient iPS cells with the hopes that these studies will eventually have direct clinical impact.