FRI

NOV

6

2015

OBJECTIVESOBJECTIVES

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”.

TheTheMMillennium illennium of the of the MMind,ind,

CCentury entury of of cconsciousnessonsciousness,,

DDecadeecade of of DDestiny, estiny, andand

DDay of ay of DDecision ecision

On On IIDENTITY! DENTITY!

WELCOME TO

The Genomic era

of medicine

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

KNOWLEDGE Revolution

The Human Genome The Human Genome ProjectProject

My people perish for lack of knowledge.

With completion of the With completion of the human genome project human genome project comes a new comes a new KNOWLEDGE-base for the KNOWLEDGE-base for the SCIENCE of MEDICINE and SCIENCE of MEDICINE and biology; biology;

KNOWLEDGE as old as the KNOWLEDGE as old as the origins of humanity, and origins of humanity, and as new as the most as new as the most recent recent gene discovery.gene discovery.

““Timeless KNOWLEDGE whose time has Timeless KNOWLEDGE whose time has come”come”

Single Nucleotide Polymorphisms

3.4 kb ~100 kb 10 kb 

 

EXON 9 10EXON 9 10 20 23 20 23  

 

  

HAPLOTYPE SNP FREQUENCYR305W A355A A686A A776A African Nigerian Hispanic European AsianC/T G/A A/C C/T American American

 

1* CC GG AA CC 0.348 0.282 0.101 0.041 0.1432 C G A T 0.225 0.250 0.209 0.148 0.199 3 C G C C 0.064 0.138 0.031 - -4 C G C T 0.023 0.018 - - -5 C A A C 0.114 0.062 0.337 0.321 0.2476 C A A T 0.104 0.020 0.289 0.425 0.4117 C A C C 0.011 0.012 - 0.003 -8 T G C C 0.036 0.074 - - -9 T G A C 0.047 0.130 - 0.018 -10 T G A T 0.023 0.009 0.033 0.038 -11 T A A T - 0.005 - - -12 T A A C - - - 0.006 -13 T A C C 0.006 - - - -

2N= 512 200 64 372 120

P gene haplotype frequenciesP gene haplotype frequencies

In 2007 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.

Individual and Population-based Genome Variation

Biology

Genome

DNAsequenc

e

variationlinks

It’s all about Life

Identity

A Finished Human Genome SequenceFrom DNA to Life

http://www.ornl.gov/TechResources/Human_Genome/primer_pic.htm

Unlocking the Mysteries of LifeUnlocking the Mysteries of LifeFrom Genomes to SocietyFrom Genomes to Society

Family History BiologyDiseaseGender

Age

Clinical Phenotype

EnvironmentalFactors

CulturalFactors

HUMAN GENOME

ClimateParasitesPollutantsSmokingAlcoholDrugs

AttitudesBeliefs

Timeline (years ago)Timeline (years ago)55 50505005005,0005,000 50,00050,000

agrarian ageagrarian age

industrial industrial ageage

digitaldigital ageage

hunter-gatherer agehunter-gatherer age

The HUMAN GENOME Story Of human origins, migrations, adaptations, transformation, and liberation,

Now Unfolded in Research on DNA Sequence Variation.

At the end of all our exploring, we shall arrive where we began and

know the place for the first time. T.S. Eliot

NHGC BIOPHYSICS Research Goal

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).

James Lindesay, PhD

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).

THE LIVING GENOME

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

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.

Quantum Biology

Critical Research QuestionsCritical 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?

ConclusionThe 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 … We ask ourselves who am I … You are a child of the universe…You are a child of the universe…

We are born to make manifest We are born to make manifest the glory of God, which is in eachthe glory of God, which is in eachof us… of us…

As we are liberated from our ownAs we are liberated from our ownfears, our presence automatically fears, our presence automatically liberates others.liberates others.

- - Nelson MandelaNelson Mandela

Defining Human Identity

“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!!!

Moving from GENOMIC BIG DATA , through INFORMATION SCIENCE, to HUMAN GENOME KNOWLEDGE.

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.”

Until the lions tell their own story, the tale of the hunt will always glorify the hunter.

  Ghanaian proverb

The African American Story Is A Microcosm of the Human Story

AcknowledgementsNational Human Genome

Center Molecular Genetics, Epidemiology & GenEthics BiophysicsMuneer Abbas James Lindesay Yuanxiu Chen Philip KurianMezbah Faruque William HerculesTshela Mason Luisel Ricks-Santi Bradford WilsonChristina JohnsonDanyelle WinchesterJabril Johnson Georgia Dunston Statistical Genetics & BioinformaticsGeorge Bonney*Victor Apprey *deceased