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Cambridge Stem Cell Institute



Professor Kathy Niakan

Genetic regulation of early human development


Departmental Affiliation: Physiology, Development and Neuroscience



The goal of our research is to understand the molecular mechanisms that control early human development. The mechanisms that regulate early cell fate decisions in human development remain poorly understood, despite their fundamental biological importance and wide-reaching clinical implications for understanding infertility, miscarriages, developmental disorders and therapeutic applications of stem cells. We seek to uncover when and how human embryonic epiblast cells are established and maintained, and to understand the molecular mechanisms that distinguish these pluripotent cells from extra-embryonic cells during embryogenesis. We will further develop pioneering methods to investigate gene function during human embryogenesis using CRISPR-Cas9-mediated genome editing, TRIM-Away protein depletion, constitutively active and kinase dead variants of proteins and small molecule inhibitors and activators. These approaches will enable us to directly test the function of genes involved in signalling pathways, and key transcription factors downstream of these pathways, which we hypothesize are involved in the first and second cell fate decision in humans. Altogether, we seek to make significant advances in our understanding of the molecular programs that shape early human embryogenesis, which has the potential to provide fundamental insights and to drive clinical translation.


Fluorescent images showing gene expression in human embryos at early and late stage of pre-implantation development, where blue is each cell of the embryo, green is a cell membrane marker, magenta is a placental gene expression. Immunofluorescence analysis of DAPI (blue), F-ACTIN (green), GATA3 (magenta) staining in a human morula (left) and blastocyst (right) stage embryos.


Additional links 

Niakan Lab at the Crick Institute 

Centre for Trophoblast Research

Centre for Science and Policy

Cambridge Reproduction SRI Steering Committee


Selected Publications

  • Norah M E Fogarty, Afshan McCarthy, Kirsten E Snijders, Benjamin E Powell, Nada Kubikova, Paul Blakeley, Rebecca Lea, Kay Elder, Sissy E Wamaitha, Daesik Kim, Valdone Maciulyte, Jens Kleinjung, Jin-Soo Kim, Dagan Wells, Ludovic Vallier, Alessandro Bertero, James M A Turner, Kathy K Niakan (2017) Genome editing reveals a role for OCT4 in human embryogenesis, Nature, 550:  67–73
  • Louise A Hyslop, Paul Blakeley, Lyndsey Craven, Jessica Richardson, Norah M E Fogarty, Elpida Fragouli, Mahdi Lamb, Sissy E Wamaitha, Nilendran Prathalingam, Qi Zhang, Hannah O'Keefe, Yuko Takeda, Lucia Arizzi, Samer Alfarawati, Helen A Tuppen, Laura Irving, Dimitrios Kalleas, Meenakshi Choudhary, Dagan Wells, Alison P Murdoch, Douglass M Turnbull, Kathy K Niakan, Mary Herbert (2016) Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease, Nature, 534: 383–386