Transcript Georgia M. Dunston PhD

FRI
N
O
V
6
2015
OBJECTIVES
 State the role of the SCIENCE of the
HUMAN GENOME and health disparities
in African Americans on unlocking the
mysteries and mythologies of genes in
health and disease.
 Relate President Barrack Obama’s 2015
State-of-the-Union announcement of his
Precision Medicine Initiative to unfolding
“The Human Genome Story of LIFE”.
WELCOME
TO
Genomic era
of medicine
The
The
Millennium of the Mind,
Century of consciousness,
Decade of Destiny, and
Day of Decision
On IDENTITY!
The Human Genome KNOWLEDGE Revolution
The beginning of a new cycle of
knowledge on the earth, knowledge
about our shared biology and identity
encoded in the human genome.
The Human Genome Project
With completion of the
human genome project
comes a new KNOWLEDGEbase for the SCIENCE of
MEDICINE and biology;
My people perish
for lack of knowledge.
KNOWLEDGE as old as the
origins of humanity, and as
new as the most recent
gene discovery.
“Timeless KNOWLEDGE whose time has come”
Single Nucleotide Polymorphisms
P gene haplotype frequencies
3.4 kb
EXON 9
HAPLOTYPE
1*
2
3
4
5
6
7
8
9
10
11
12
13
~100 kb
10
10 kb
20
23
SNP
R305W A355A A686A A776A
C/T
G/A
A/C
C/T
FREQUENCY
African Nigerian Hispanic
American
European
American
Asian
C
C
C
C
C
C
C
T
T
T
T
T
T
0.348
0.225
0.064
0.023
0.114
0.104
0.011
0.036
0.047
0.023
0.006
512
0.041
0.148
0.321
0.425
0.003
0.018
0.038
0.006
372
0.143
0.199
0.247
0.411
120
G
G
G
G
A
A
A
G
G
G
A
A
A
A
A
C
C
A
A
C
C
A
A
A
A
C
C
T
C
T
C
T
C
C
C
T
T
C
C
2N=
0.282
0.250
0.138
0.018
0.062
0.020
0.012
0.074
0.130
0.009
0.005
200
0.101
0.209
0.031
0.337
0.289
0.033
64
Individual and Population-based Genome Variation
2007
In
researchers came to
appreciate the extent to
which our genomes differ
from person to person
and the implications of
this variation for
deciphering the genetics
of complex diseases and
personal traits.
It’s all about Life
Genome
DNA
sequence
variation
links
Biology
Identity
A Finished Human Genome Sequence
From DNA to Life
http://www.ornl.gov/TechResources/Human_Genome/primer_pic.htm
Unlocking the Mysteries of Life
From Genomes to Society
HUMAN GENOME
Family History
Biology
Disease
Gender
Age
Environmental Cultural
Factors
Factors
Clinical
Phenotype
Climate
Parasites
Pollutants
Smoking
Alcohol
Drugs
Attitudes
Beliefs
The HUMAN GENOME Story
Of human origins, migrations, adaptations, transformation, and liberation,
Now Unfolded in Research on DNA Sequence Variation.
Timeline (years ago)
50,000
5,000
500
50
hunter-gatherer age
agrarian age
industrial
age
digital
age
At the end of all our exploring,
we shall arrive where we began and
know the place for the first time.
T.S. Eliot
5
NHGC BIOPHYSICS
Research Goal
James Lindesay, PhD
To explore the biophysical underpinnings
of common variation in the genome to
better understand the functional aspects
of natural variation (i.e. polymorphisms
using first principles of thermodynamics
and statistical physics (genodynamics).
THE LIVING GENOME
We define the human genome
as the most sophisticated LIVING
information and communication
system known to humankind.
_______________________________________________
Lindesay J, Mason TE, Ricks-Santi L, Hercules W, Kurian P,
Dunston GM (2012) A new biophysical metric for interrogating
the information content in human genome sequence variation:
Proof of concept. Journal of Computational Biology and
Bioinformatics Research 4(2):15-22).
To the Quantum Level of the Life Sciences
The human genome sequence is the roadmap to
the energy level of life and a new human identity.
Genomes: Complex dynamical, information
and communication systems
Quantum Biology
It is through human genome
variation that we come to know
ourselves as unique ‘quantum
beings’, powerful beyond
measure, and responsible for
the conditions of our life.
Critical Research Questions
 What is the link between genes and behavior?
 How does our genotype interact with our
environment to produce behavior?
 What methods are available to investigate
these questions?
 What are the societal (social) and
philosophical (ethical) implications of
discovering such links?
Conclusion
The human genome forces us to
become aware of how we define
ourselves, and how ‘who we say
we are’ governs our behavior,
which is related to the health of
our body, the integrity of our
communities, and the stability of
our world.
We ask ourselves who am I …
You are a child of the universe…
We are born to make manifest
the glory of God, which is in each
of us…
As we are liberated from our own
fears, our presence automatically
liberates others.
- Nelson Mandela
Defining Human Identity
Moving from GENOMIC BIG DATA , through INFORMATION SCIENCE, to HUMAN GENOME KNOWLEDGE.
“I have a dream that my four little
children will one day live in a nation,
where they will not be judged by the
color of their skin, but by the content
of their CHARACTER”.
-Martin Luther King Jr.
KNOWLEDGE is power, but WISDOM is supreme!!!
A TIME for the RESEARCH
UNIVERSITY:
The 21st Century Challenge to HBCUs
♦ The product of research is knowledge.
“We must do the research and own
the KNOWLEDGE required to
reclaim our inheritance; restore our
health; rebuild our communities;
repair our cities, and transform our
world.”
The African American Story Is
A Microcosm of the Human Story
Until the lions tell their own
story, the tale of the hunt will
always glorify the hunter.
Ghanaian proverb
Acknowledgements
National Human Genome Center
Molecular Genetics, Epidemiology & GenEthics
Biophysics
Muneer Abbas
Yuanxiu Chen
Mezbah Faruque
Tshela Mason
Luisel Ricks-Santi
Bradford Wilson
Christina Johnson
Danyelle Winchester
Jabril Johnson
James Lindesay
Philip Kurian
William Hercules
Georgia Dunston
Statistical Genetics & Bioinformatics
George Bonney*
Victor Apprey
*deceased