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For
most diseases, diagnosis and medical treatment
don’t take place until a patient, with symptoms,
visits the doctor. At this point in an illness, intervention
may be limited to alleviating the symptoms, and slowing
progression. Fortunately, this approach will change.
One of the most fascinating breakthroughs of our time—the
deciphering of the human genome—is catalyzing
a paradigm shift from reactive to predictive medicine.
Knowledge gleaned from the recent,
complete DNA sequencing of the human and a rapidly
growing number of model organisms (including other
primates, mice, worms, puffer fish, and chickens)
offers the clearest blueprint yet of the processes
underlying life. The application of this new biology
promises to revolutionize patient care, and, for the
next decade, guide biomedical research aimed at genetic
testing, drugs tailored to genetic profiles, and gene
therapies to replace mutations or to bolster immunity.
James Watson, the Chicago alumnus
who shared the 1962 Nobel Prize for discovering the
structure of DNA, launched the Human Genome Project
in 1990. Today, University of Chicago scientists are
building on Watson’s achievements, and reshaping
our understanding of gene function and the role faulty
genes play in disease causation. Aided by an unprecedented,
and still emerging, foundation of genetic information,
they are poised to develop earlier and more accurate
disease interventions to improve human health.
We know quite a bit about rare,
single gene disorders such as Huntington’s disease
and Cystic Fibrosis, but the major challenge in human
genetics today is to understand the genetic determinants
of common heritable disorders. Using a genomic approach,
T. Conrad Gilliam, Professor and Chairman of Human
Genetics, seeks to identify and characterize how multiple
genes and environmental components interact. His goal
is to understand the genetic architecture—the
interplay of genetic and environmental factors —that
makes individuals vulnerable to disease. Such a model
would be a turning point for predicting earlier who
is at risk, preventing or delaying onset, or possibly
even curing, such disorders as Alzheimer’s,
diabetes, autism, schizophrenia and cardiovascular
disease.
Bringing researchers with a broad
range of interests and expertise together—within
the unique, highly-collaborative framework the University
of Chicago fosters—has the power to achieve
a goal of this magnitude.
The emerging disciplines of genomics
and bioinformatics, for example, now allow computational
and information scientists to partner with biomedical
researchers. Together, they can excavate genetic plans—the
information embedded within the DNA of our living
ancestors (evolutionary genetics) and our near and
distant human relatives (population genetics)—to
converge, for example, on the genetic determinants
of low blood pressure and hypertension, anchors that
lay the groundwork for health or disease.
World leaders in the design and
development of modern evolutionary and population
genetic theory, University of Chicago scientists Marty
Kreitman and Jonathan Pritchard reconfigure pre-genomic
theory to fit the vast stores of newly acquired DNA
sequence variation. They compare novel patterns of
gene evolution, regulation, or development against
sequence variations associated with healthy and disease
populations to predict the consequences of deletions,
insertions, or translocations in the DNA codes.
Others like Bruce Lahn and Wen-Hsiung
Li are among the first practitioners of modern empirical
genomics. They explore differences in DNA sequence
and gene expression between organisms to identify
genes or gene regulatory elements that distinguish
humans from lower primates or that correlate with
specific behaviors, traits, or biological mechanisms.
It is also believed that common disease variants will
be enriched among the non-gene coding, regulatory
DNA sequences identified by such comparative genomic
studies.
Collaborating to apply modern theory
to modern genetic and genomic data, these human geneticists
and evolutionary biologists, and others at Chicago,
currently seek to understand the structure and mechanisms
of basic biological processes. Ultimately, their basic
research spanning the processes of speciation and
the exquisite regulation of embryological development
to the determination of health versus disease will
give rise to a new era of personalized medicine.
Timely and strategic philanthropic
investments in these areas will help us harness the
power and potential of genomic information and provide
for future innovation that will transform basic discoveries
into new, preventative treatments for our patients
far into the 21st century.
- A core physical facility to
house a viable bioinformatics infrastructure and
serve biomedical researchers
- Investment in hardware, software,
and database solutions to accommodate the information
systems related to genomic data, to accelerate the
pace of discovery, and to keep these facilities
and platforms at the leading edge of technology
- Investment in additional innovative,
world-class scientists and engineers working at
the interface of the basic and physical sciences
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