By Aparajita Mukherjee
IN 1758, Carl Linnaeus, the father of taxonomy, coined the term Homo Sapiens in his book Systema Naturae - one of the first records of man's quest for his roots.
But the fascination continued through the centuries, propelled by Darwin's theories, technological advances and increased funding.
In 1963, the concept of races or sub-species within the human race was refined by Carleton Coon in The Origin of Races.
And now, gene mapping and tracing of roots has been elevated to a whole new level, with the Genographic Project, a five-year research jointly being conducted by National Geographic Society, IBM Corporation and the Waitt Family Foundation.
This path-breaking project is unravelling the story of our origins through 100,000 DNA samples.
Dr Spencer Wells, the National Geographic Explorer in Residence and Population Geneticist, who developed the concept and now provides overall coordination, says, Genographics is a concerted scientific effort to answer the basic question Ð where do we all come from?
We delve into the DNA composition, the basic tools of genetics, of individuals to arrive at the answer to this question, by reconstructing the family tree of everyone alive today. Dr Wells was in town to deliver a lecture on Deep Ancestry Ð Inside the Genographic Project at the Georgetown University at Education City.
In an interview to Qatar Today he speaks at great length on the various components of the project, the partners, the findings so far, the sampling structure, indigenous populations, what the project is doing with them, how the project findings will help humanity at large and the ethical issues involved.
According to Dr Wells, there are approximately 50 mutations in our genetic structure, which create variations in the gene pool of every generation, which in turn gets passed on to the next.
DNA (deoxyribonucleic acid) is a long informational molecule and the sequence of its components provides information about the origins and evolution of human beings.
We are all the SAME... Well, almost!The DNA samples are being collected by way of voluntary public participation. This unprecedented effort, led by National Geographic which is distributing and selling the Participation Kits, will map humanity's genetic journey through the ages while helping us better understand our own history. The findings will also help in understanding how, despite our diverse appearances, we all share common origins and how we went about populating the planet.
Our findings so far suggest that people are 99.9 percent identical at the genetic level. The project started in 2005 and will conclude at the end of 2010. We have nearly four years to go. The human DNA, Dr Wells says, is the greatest history book ever written.
The story that we are telling from the findings so far suggest that we, homo sapiens, originated as a species in Africa some couple of thousands of years ago. It is a common stock that gave rise to the entire human race. We are all members of an extended African family and started to leave that place some 60, 000 years ago to populate the entire world which is roughly 2000 generations, a blink of an eye in evolutionary science.
On the detailed structure of the project, Wells adds, The entire model of the project is based on cooperation between the scientists who are working on the project and the tribal elders. The project involves extensive travels to enable the researchers reach the local indigenous population, explaining what we are looking at and eliciting their interest in the project and explaining what is involved in participating. The route we are taking to collect DNA is through blood samples or cheek swabs. We then extract the DNA, purify it and then take what is called genetic markers, which are random but tiny little changes in the DNA that occur in them and are passed on from generation to generation. These are markers of descent, which then are mapped against the family trees. This is the core of the project and we have three components.
The first Ð Field Research Ð is what we are doing with indigenous people, which is any group of people who have lived in one place for the past 500 years or more and have a connection with the place that they have lived. The tenure varies Ð it could be 500 years for some locations or in others it could extend to 100,000 years in the case of Africa or 50, 000 years in the case of Southern India or Australia. It could be a tribe, a village, any population combine that has not been affected by the mass migrations all over that were necessitated with the Industrial Revolution. We are studying 100,000 such samples. The field researchers are being led by a group of population geneticists who study genetic variations and there are 10 regions across the globe where the research is on.
The second is Public Participation and Communication, which is the story of all of us and thus we wanted to encourage wide public participation, even outside indigenous populations. Anybody who wants to participate can go to our website: www.nationalgeographic.com/genographic and order a kit. As of now, we have sold nearly 200,000 kits which is fantastic response and this has not only helped us raise money for the project (which is a totally non-profit venture), but is also financing the third component of the project -- the Legacy Project that will help us in giving something tangible back to these indigenous people. So far we have raised $2.2 million and this money is being utilised for the educational and cultural initiatives that have been organized by these indigenous people themselves, like language or crafts preservation.
Where do we come from?
If the basic question that the project aims to answer is: where do we come from and how did we get where we are today, how far is the project drawing from the theory of evolution?
Well, what we study is basically evolutionary genetics Ð changes in gene frequency over time. That is evolution at its most basic level. And so the basic premise is embedded in the theory of evolution. Nothing in biology makes any sense except in the light of evolutionary understanding of diversity, the geneticist says.
On the sampling structure for the project and whether it is wide enough to address all the population groups, Wells explains, It would have been ideal if we could have studied each and every individual alive today which would amount to 6.5 billion people.
Since that is not possible, we are looking at 100, 000 indigenous people who have retained their link to their respective ancestry which those of us who have moved more frequently, have lost. And so studying their genes will give us an insight into what the ancient genetic patterns or structures were like. These 100, 000 people are spread across 10 centres. The research teams are based in East/Southeast Asia, India, North America, Sub-Saharan Africa, Western/Central Europe, Australia/Pacific, North Eurasia, Middle East/North Africa, South America and Western/Central Europe. And this sample size is representative of all population groups spread across the world. Explaining what link genography has with geography and other disciplines, Wells says that this project aims to contextualise the genetic patterns in the light of geography and the populations that have lived there.
For reliability, we are working with anthropologists and biologists who have been working with a particular population group. We conduct interviews with the people after explaining the concept to them. This project relies on people's willingness to participate, with the help of local experts. It is people who come forward and nominate themselves on the website by buying a kit and it is totally anonymous. Each kit that is bought is allotted a code. No names are mentioned. When the results are ready, we ask the participant to submit them to the database and also for family history, languages spoken etc.
On the role of the different partners in the project, he says, National Geographic operates this project out of their headquarters. I am an employee of National Geographic. Once we realised that there would be a lot of data handling to do, we approached IBM. They were excited with the idea. Also, IBM has now embarked on a new field called computational biology, which deals in the application of computer technology to analysing biological data, in the field of genetics in particular. They were interested in this project since for them too, it was a computational challenge. They have given a whole lot of funding and IT support for the project, including the laptops of the PIs, the servers that we are using and so on. The total budget of the project is $40-50 million over the lifetime of the project and depends on the number of kits, with each kit priced at $100 that we can still sell. The third partner in the project is the Waitt Family Fund which is providing critical funding to underwrite the field research of the project and helped us to set up the Regional Centres.
On whether the sampling is restricted to homo sapiens alone, he says Majorly yes, but we are also analysing the ancient DNA from the long dead remains of other species too. The University of Adelaide is analysing the data that is being collected elsewhere. The project's primary aim is to answer the basic question of human history, the spread of humanity and its knowledge, perception of races, how we are all closely related though we look different.
It also deals with how we can give something back to the indigenous people who are endangered by way of losing cultures. All the data that we collect during the course of the project will be published in scientific journals. We are in the process of publishing some of our findings in PLOS Genetics, an online publication. All the data that we will churn out and process can be used by the scientific community. The DNA samples that we are collecting will be kept at the Regional Centres and can be used by posterity. If we get requests from parties that are interested in studying certain markers, we will allow this data to be used and would also collaborate with them, if we so feel.
With our findings, some traditional myths on ancestry might be broken or confirmed. We take great care in explaining the concept at the outset of participation to each participating individual.
There would have been risks if we were studying one particular community or race. But, we are studying the ancestry of the entire human race, thus there are no risks involved. No medically relevant data is being handled and to that extent we are safe. Except genetic markers that deal with ancestry, we are not dealing with any other data and I do not see any challenges or risks. n
The DNA molecule.
Dr Spencer Wells in the Sahara Desert of northern Chad.
Dr Wells is a leading population geneticist for whom the Genographic Project represents the ultimate marriage of his two great passions, biology and history. The 37-year-old scientist, author and documentary filmmaker has dedicated much of his career to studying humankind's family tree and closing the gaps in our knowledge of human migration.
Now a National Geographic Explorer-in-Residence, Wells is spearheading the Genographic Project, calling it a dream come true.
His hope is that the project, which builds on Wells' earlier work featured in his book and television programme, The Journey of Man, and is being conducted in collaboration with other leading global scientists, will capture an invaluable genetic snapshot of humanity before modern-day influences erase it forever.
Map of early human migration patterns.
The individuals are representatives of indigenous communities who are participating in the Genographic field research
Bushmen armed with bows and arrows walk across a salt pan in Nyae Nyae Conservancy, Namibia. The Genographic Project, a global, five-year research initiative launched by National Geographic and IBM, will trace the migratory history of the human species.
Genographic Project Public Participation Kit.
On expedition in Chad, Spencer Wells explains the Genographic Project to local village leaders.
National Geographic Maps
Chris Johns, National Geographic
Becky Hale, National Geographic
Mark Thiessen, National Geographic
The human DNA is the greatest history book ever written
People are 99.9 percent identical at the genetic level