Joan Heath-Projects

Joan Heath-Projects


Role of U12-type splicing in development and cancer

Our major approach to discovering genes required for rapid proliferation has been to clone the mutant genes underlying a collection of zebrafish intestinal mutants we identified in an ENU mutagenesis screen conducted in collaboration with Professor Didier Stainier, then at the University of California, San Francisco. The genes we identified play roles in “information processing” pathways including transcription, pre-mRNA processing, ribosomal biogenesis and nuclear pore formation. 

We are currently investigating whether the aberrant behaviour of these processes contributes to the development of major cancers.

Reference: Markmiller S, et al., Minor class splicing shapes the zebrafish transcriptome during development. Proc Natl Acad Sci U S A. 2014 111:3062-7

Reprogramming of somatic cells to iPS cells

The generation of safe (non-oncogenic) induced pluripotential stem cells (iPSCs) has the potential to transform regenerative medicine. Despite the remarkable progress that has been achieved since the methodology was first introduced eight years ago, the derivation of iPSCs from somatic cells remains a highly inefficient procedure.

To address the likelihood that several molecular mechanisms governing the process are yet to be described, we are investigating the impact of manipulating the genome of cultured fibroblasts on their capacity to be programmed to bona fide iPSCs.