The ISM aims to demonstrate how the systems
view of disease creates significant opportunities for the development of
powerful new molecular diagnostic techniques designed to evaluate the health
and transformation of cells toward disease, early detection of disease
states and the early intervention needed to manipulate factors that cause
disease.
Systems Medicine and Systems Biology are
viewed in the scientific community as novel methods of understanding biology
and approaching medicine. Systems Biology seeks to integrate different
levels of information, studying the relationships and interactions between
various parts of a biological system, to develop an understandable model of
how biological systems function from the genetic level to the physiological
level. While Systems Biology provides a holistic view of the health of an
organism, Systems Medicine focuses on the causal, developmental,
pathological and clinical aspects of disease from the molecular level to the
physiological to the pathological level in a human.
Systems Medicine and Epigenomics
The ISM approach to Systems Medicine will
include a focus on Epigenomics as the first wave of innovation that will
define and distinguish the ISM. In order to understand the context in which
epigenomic research will be addressed at the ISM, it is essential to first
elucidate the significance of this field of biomedical research by
distinguishing between genomics and epigenomics.
What is Epigenomics?
Epigenomics is a growing field of study that
seeks to identify as well as elucidate the roles of chemicals and proteins
that surround and adhere to DNA. Unlike genetic information, epigenetic
information directs the time, space and manner in which genetic information
will be used. This can explain reversible heritable changes in gene function
that occur without a change in the DNA sequence.
Genomics is the study of an organism's
genetic material, which delineates the blueprint for all proteins to be
created by a living organism. The prevailing dogma of contemporary
biomedical research is that changes or mutations in the DNA sequence of the
human genome cause abnormal expression of genes and are thus at the root of
human diseases. However, while various disease states have been linked to
several genes, a significant proportion of genes have not displayed
mutations in the DNA sequence that would explain human disease states.
Given that DNA sequence mutations are often absent in various disease
states, the field of Epigenomics is a hotbed of biomedical study that the
ISM will pursue with concentrated focus.
Identical Twins and Disease
A perplexing epigenetic question surrounds
the development of disease within identical twins. In many cases,
researchers and clinicians are able to identify the cause of a disease, such
as myeloma, within one identical sibling and not the other sibling. Given
the identical genomic composition of both individuals, it is hypothesized
that epigenomic changes must be causing the development of the illness. An
understanding of these changes, using the healthy sibling for comparison,
can lead to greater understanding of the genesis of this and other diseases.
The study of Epigenomics at the ISM will
provide an opportunity to explain the role of environmental factors and
geographic trends in disease status. Moreover, the reversible nature of
epigenomic changes opens the door to preventative and interventional
approaches that may be applied to obstruct disease progression.
The ISM envisions Epigenomics as a key first
wave of innovation. These efforts will entail research that is both
collaborative and additive to the fields of Genomics and Systems Medicine,
among others. Some of the early research topics anticipated in the area of
Epigenomics may include:
- Epigenomic Diagnostics and Therapeutic
Technology: Develop novel technologies to apply to newly identified
diagnostics and therapeutics.
- Chromosomal/Genomic/Epigenomic Analysis
of Disease: Correlate changes in the genome and epigenome to the
development of disease.
- Environmental Impact on Epigenome and
Disease: Investigate the environmental toxicology of changes in the
epigenome and correlate to the development of disease.