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A research team led by an Australian scientist has uncovered the first indigenous African DNA sequence, a discovery that has vast implications for medical research.

Not only does the find provide the tools to read the story of human evolution, but it also helps unlock the story of disease.

The discovery, which appears today in the journal Nature, took two years, working with five African men all over the age of 80.

Dr Vanessa Hayes of the University of New South Wales is originally from South Africa, and it was her work on HIV in Africa that led her to her latest discovery.

While studying the virus, she found that the southern African population was not included in the genetic data base, and that proved to be a major hurdle for scientists attempting to understand HIV.

"It was a frustrating way to work as a scientist and we were keen to move the research forward to understand the disease globally," says Hayes.

"[It is impossible] if we don't have the tools and for the tools, we need the DNA sequence."

That frustration led Hayes to help sequence the first indigenous genome.

Along with a team of scientists from Penn State University in the United States, Hayes spent two years working with four Kalahari Desert bushmen and Archbishop Desmond Tutu who is from the ethnic Bantu group of southern Africa.

"The men that participated in the study were all well into their 80s, with the Archbishop being the youngest," she says.

"These are all healthy men - we know which diseases the Archbishop has, we have his full medical history - so we can start now by putting the pieces of the puzzle together."

The scientists found that these indigenous people are amongst the most genetically diverse in the world, with 1.3 million new genetic variants.

They have now been added to the existing human genome database, which until now had been largely European.
Out of Africa

Researchers believe many diseases may have originated in Africa, so this find will complete the picture and open the door for crucial medical breakthroughs.

"I like to use the analogy of a book," says Hayes.

"Before we had a book, everything we were doing was very European-centric. It was great we were making new discoveries but it was still only the book.

"Now what we are doing by adding the indigenous genomes from southern Africa - that represents the ancient history of all mankind - we're now starting to make the book into a real novel.

"We can correct the spelling mistakes, we were able to correct the sentences. We were not only able to do that, we were able to open the door of the library and read a whole shelf.

"[We were able to] add information that is now going to help us globally to understand disease and not restrict our research to just European populations."

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