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Explore the role of the Human Genome and health disparities in African Americans in understanding genes and disease. Learn about President Obama's Precision Medicine Initiative and the power of genomics in medicine.
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FRI N O V 6 2015 The Science of Medicine and African Americans ______ ______ _ ________ __ ___________ ___ _______ _______ _______ ____ _____ _____ _____ _________ ______ __ _______ _________
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’s2015 State-of-the-Union announcement of his Precision Medicine Initiative to unfolding “The Human Genome Story of LIFE”.
The Millennium of the Mind, Century of consciousness, Decade of Destiny, and Day of Decision On IDENTITY! WELCOME TO The Genomic era of medicine
The Human Genome KnowledgeRevolution 2001 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 KNOWLEDGE-base for the SCIENCE of MEDICINE and biology; KNOWLEDGE as old as the origins of humanity, and as new as the most recent gene discovery. My people perish for lack of knowledge. “Timeless KNOWLEDGE whose time has come”
P gene haplotype frequencies 3.4 kb ~100 kb 10 kb EXON 9 10 20 23 HAPLOTYPESNPFREQUENCY R305W A355A A686A A776A African Nigerian Hispanic European Asian C/T G/A A/C C/T American American 1* C G A C0.348 0.282 0.101 0.041 0.143 2 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 0.247 6 C A A T 0.104 0.020 0.289 0.425 0.411 7 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
Individual and Population-based Genome Variation In2007 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. Science 21 December 2007 Vol. 318 no. 5858 pp. 1842-1843
The Human Genome It’s all about Life Genome DNA sequence variation links Biology Identity
A Finished Human Genome SequenceFrom DNA to Life http://www.ornl.gov/TechResources/Human_Genome/primer_pic.htm
Humanity Populations Families Individuals Systems Organs Tissues Cells Unlocking the Mysteries of LifeFrom Genomes to Society DNA Variation Human Genome DNA Variation
Human Genome Variation and Health Disparities HUMAN GENOME Family History Biology Disease Gender Age Clinical Phenotype Cultural Factors Environmental Factors Climate Parasites Pollutants Smoking Alcohol Drugs Attitudes Beliefs
Genomics and Culture
The Human GENOME Story Of human origins, migrations, adaptations, transformation, and liberation, Now Unfolded in Research on DNA Sequence Variation. Timeline (years ago) 2015 50,000 5,000 500 50 5 hunter-gatherer age agrarian age Information 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
NHGC BIOPHYSICSResearch 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).
Whole Genome Transformation of Human Identity: Take a Quantum Leap The human genome sequence is the roadmap to the energy level of life and a new human identity. To the Quantum Level of the Life Sciences
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.
A Call to Greatness 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 , throughINFORMATION SCIENCE, toHUMAN 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!!!
ATIME for the RESEARCHUNIVERSITY: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.
Acknowledgements National Human Genome Center Molecular Genetics, Epidemiology & GenEthics Biophysics Muneer Abbas James Lindesay Yuanxiu Chen Philip Kurian Mezbah Faruque William Hercules Tshela Mason Luisel Ricks-Santi Bradford Wilson Christina Johnson Danyelle Winchester Jabril Johnson Georgia Dunston Statistical Genetics & Bioinformatics George Bonney* Victor Apprey *deceased