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Africans to benefit from first local genome study

February 27th, 2011

The findings of a study on human genomes from the San and Bantu genetic pools
in southern African will play a key role in understanding human genetic
variation and its effects on human health, scientists say. Four tribal leaders
who are at least 80 years of age were chosen from the San community, while
Archbishop Desmond Tutu represented the Bantu community for purposes of the
study.According to Professor Stephan Schuster from Pennsylvania State University
in the United States, pharmaceuticals are currently only manufactured for and
tested on Europeans and are expected to work for the rest. The findings of the
study, ?Southern African Genome Sequencing project? shows that southern African
people have completely different genes to that of Europeans, Asians and even
West Africans, said Schuster.The study identified 1.3 million genetic variants
that scientists did not observe previously. The study further reveals ?striking?
levels of genetic differences amongst individual participants.?On average, there
are more genetic differences between two Bushmen in our study than between a
European and an Asian. To know how genes affect health, we need to see the full
range of human genetic variation and southern Africa is the best place to look,?
said Webb Miller, professor of biology and computer science at Pennsylvania
State University.The study used three new sequencing technologies, which deliver
DNA sequences with unprecedented economy and speed.A nearly life-long medical
history accompanies each of the participants? genomes resulting in the
identification of genetic differences that may have contributed to particular
health conditions.The researchers expect that these genomes will enable more
accurate identification of diseases caused by rare genetic variants in southern
Africans and in people across the world.Archbishop Tutu said the study has been
especially beneficial to him as it found that genetically, he cannot pass on any
diseases to his children or grand children. ?I survived prostate cancer and was
worried that someone in my family will also get it, but the study found that we
do not have that problem where I can pass a disease on. It?s very good news for
my family and I,? he said.Africans are expected to benefit from the study as
they have often been poorly-represented in pharmaceutical trails and suffer from
population-based differences in the effectiveness of drugs, such as
anti-retroviral treatment for HIV/AIDS, according to the researchers.The
research was led by Pennsylvania State University and involved other
institutions including the Children?s Cancer Institute in Australia, the
University of New South Wales, the University of Washington and the Human Genome
Sequencing Center at Baylor College of Medicine, among
others.

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