22 March 2009

The Human Genome

Wednesday night, in Boston, the weather was just beautiful. Fortunately, I had a useful reason to enjoy it as I was attending a seminar in the Joseph B. Martin Conference Center at Harvard Medical School.







~ Panelists ~
Professor of Genetics and of Medicine, Harvard Medical School
and Massachusetts General Hospital;
Co-founder, the Broad Institute of Harvard and MIT


George Church, Ph.D.
Professor of Genetics, Harvard Medical School;
Member of the Affiliated Faculty, Harvard-MIT Division of Health Sciences
and Technology

Jeffrey M. Drazen, M.D.
Parker B. Francis Distinguished Professor of Medicine
Harvard Medical School
Editor-in-Chief, New England Journal of Medicine

Chao-Ting Wu, M.D.
Professor of Genetics, Harvard Medical School;
Director, Personal Genetics Education Project

With Moderator;
Raju Kucherlapati, Ph.D.
Paul C. Cabot Professor of Genetics,
Harvard Medical School
Professor of Medicine,
Brigham and Women's Hospital;

Member, Partners Center for Personalized Genetic Medicine

The goal of the Human Genome Project was to map the entire human genome and began in 1990 on the work that consisted of having to map six million pairs of DNA. George Church was the founder of the Genome Project and was one of the first to develop the technologies that allow for sequencing. He is currently the founder of the Personal Genome Project as well; a quest to publicly display the mapped genome's of 100,000 individuals for the purpose of making data available for the analysis of the entire human community. This ambitious project is worth following. Mapping of your own genome could cost as little as $5K as early as this coming year..

Throughout your own body, some DNA varies. there may be chromosomes or parts missing. The double helix; or, structure of DNA comes from the conjunction of the mothers and the fathers DNA. Very unjustly described as two strands of pearls, tightly twisted around each other. Well, usually these genes work together and whatever the combination agrees on becomes your own custom program. Well, apparently as has resulted in testing on mice, the genes sometimes 'battle' as headstrong bullies that convince the other gene to go completely silent. This was said by Dr. Wu along with the fact that this hasn't been shown in human genes as of yet. And, most amazingly, I learned about Repeat Induced Point Mutation which is essentially the random rewriting of a gene in order to change itself to something less compatible to the gene it is matched up with; assisting in the assurance of a unique genetic program. An innate activity inducing change, variation- selection. So interesting.

Also discussed were the implications of mapped DNA and it's effect on privacy or obligation. A law recently passed, GINA Act, making prejudice by insurance companies based on looking at an individuals genome, illegal. But, it's still very legal to lift an individuals DNA for analysis from any public (or private with a warrant) location as you freely discard cells all day long...

But, the drama comes into play with the fact that knowledge is not necessarily power in cases in which no treatment or dire diagnosis exist. Furthermore, some centers that are offering sequencing for things like breast cancer by looking at the genes BRCA1 & BRCA2; but are disturbingly able to 'brand' the testing for one of these two respectable breast cancer predictors... So, other places offer 'breast cancer' screening while not being able to actually scan for both BRCA1 & BRCA 2 and largely at the ignorance of their customers. Lastly, the implications of knowing you have a genetically inherited disease and that it's likely you parents and siblings could also get the disease - do you tell everyone? What if your family is very religious and disagree with genetic testing on religious grounds? Would you have children, would you test those children prior to deciding whether to bring them to term? These questions arise and with them critics.

For reflection; all DNA is written with the same language - all life is alike.

Further Reading
Harvard Medical School Genetics Page
National Human Genome Research Institute
The Experimental Man Project
The Genetic Alliance

~KAS

I've Thought...

03.09 ~ I am but human, in my thoughts and desires- in my inconsistencies. It makes my opposing decisions no less real, no less quantitative... confusion is but the eye of truth, beckoning reason. ~ 03.12 ~ Time. It's existence is action progression, regression, reflection and projection. What in time is solidified and carried to another time is my choice. In one choice you lose all others; as an atom appreciates when the observer decides. It's a blue ocean of intrigue and a wave of contentment- that I am lost in, whilst, carried by. ~ 03.23 ~ That we are all part of one pulsing energy of life.. ~ 3.28 ~ There is no greater power, than the power of words. In speech we pass each other in halls, ride in elevators and embark in the great adventure that are words - with all of their beauty and intrigue. There are no wrong words spoken, only wrong interpretations and implications. Honest words are organic, true and expressions of what we are; existing autonomously and innocently, regardless of what others may think of them. 3.30 ~ That, the more I learn, the more I realize how little I know. It certainly doesn't help being in the company of those who have succeeded in accumulating far more knowledge than I. Is the differentiation between intelligence and knowledge simply the accumulation verses the ability to learn/understand? Or, are the two interchangeable. I feel as though time is passing faster than my ability to accumulate... do other people share this conundrum, I wonder... 4.02 ~ That, "It is what it is" isn't exactly accurate. "It is what I make it" is more so... 4.08 ~ That, "it's not time that matters... it's that mattering is what makes time." 4.12 ~ I watch and wonder... think and ponder... about it. Should I find that I have analyzed to much, to little; or that the quandary was all for not, I'll not know till the applicable time has passed.I hereby instill time as my guide, innocently and fully without disposition and without angst. (4.17) ~ Though random, we should not ignore paths crossed. Just as, we should not entirely exclude emotion from our conclusions. (4.26) ~ That I dispise my lack of control over my own intentions and wonder why I am so weak in this regard. (4.27) ~ That I have opened doors, I wished to open, while simultaniously putting other doors at risk of closing. It's not with resistance I contemplate, it's with anxiety. (4.28) That, I should take a break. Time to simply be, for a bit. (5.01) Its hunger drives decent of rational, a battle of wit and need. Like rain pouring down, wisped by winds, settled by gravity, I’m drawn to it ~ KAS