Epigenomics
is a term that can be used to
describe two areas of research:
a. The study of epigenetic regulation of gene expression using
high-throughput techniques, or
b. The study of the influence of DNA
sequence on epigenetic regulation.
This lab
has a long-standing interest
in gene regulatory processes that extend over large regions
of the genome and give rise to human diseases. Our major
projects are centred on the discovery of DNA sequence
characteristics that discriminate genes undergoing
genomic imprinting, using these to find new imprinted
genes that are candidates for causing human disease.
The technologies
required for this research
include innovative molecular assays and bioinformatics
techniques. This combination provided the foundation for
our recent new avenue of study into cytosine methylation
patterns in large regions
of the genome.
We use these techniques to learn the rules of normal
epigenetic gene regulation through cytosine methylation,
creating the foundation for understanding how it is
disrupted in disease.
The disease-relevance
of epigenetics is now being
appreciated. The core dogma of medical genetics is that
genes cause disease through mutations. However, this
assumes that the gene is switched on appropriately to start
with. In the field of cancer research in particular, it is
now appreciated that inappropriate silencing of
tumour-suppressor genes or activation of oncogenes through
epigenetic dysregulation is a major contributor to
neoplasia.
We study how the epigenome is altered in cancer, type 2
diabetes mellitus, ageing, and as a response to diet and
other influences. It is our belief that epigenetic
dysregulation will prove to be a much more common cause of
complex human diseases than DNA mutations.
