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A Cameroonian professor plans to fill a gaping hole in humanity’s understanding of its own genetics
When the Mutambaras’ first son was a about 18 months old they began to worry about his hearing. The toddler did not respond when asked to “come to Mama”. He was soon diagnosed as deaf, though no doctor could tell the Zimbabwean couple the cause. Several years later their second son was also born deaf.
This time a doctor referred them to Hearing Impairment Genetics Studies in Africa (HI-GENES), set up in 2018 by Ambroise Wonkam, a Cameroonian professor of genetics now at the University of Cape Town. The project is sequencing the genomes of Africans with hearing loss in seven countries to learn why six babies in every 1,000 are born deaf in Africa, a rate six times that in America. In Cape Town, where Mr and Mrs Mutambara (not their real names) live, a counsellor explained that the boys’ deafness is caused by genetic variants rarely found outside Africa.
What is true of deafness is true of other conditions. The 3bn pairs of nucleotide bases that make up human DNA were first fully mapped in 2003 by the Human Genome Project. Since then scientists have made publicly available the sequencing of around 1m genomes as part of an effort to refine the “reference genome”, a blueprint used by researchers. But less than 2% of all sequenced genomes are African, though Africans are 17% of the world’s population. “We must fill the gap,” argues Dr Wonkam, who has proposed an initiative to do just that—Three Million African Genomes (3MAG).
When the Mutambaras’ first son was a about 18 months old they began to worry about his hearing. The toddler did not respond when asked to “come to Mama”. He was soon diagnosed as deaf, though no doctor could tell the Zimbabwean couple the cause. Several years later their second son was also born deaf.
This time a doctor referred them to Hearing Impairment Genetics Studies in Africa (HI-GENES), set up in 2018 by Ambroise Wonkam, a Cameroonian professor of genetics now at the University of Cape Town. The project is sequencing the genomes of Africans with hearing loss in seven countries to learn why six babies in every 1,000 are born deaf in Africa, a rate six times that in America. In Cape Town, where Mr and Mrs Mutambara (not their real names) live, a counsellor explained that the boys’ deafness is caused by genetic variants rarely found outside Africa.
What is true of deafness is true of other conditions. The 3bn pairs of nucleotide bases that make up human DNA were first fully mapped in 2003 by the Human Genome Project. Since then scientists have made publicly available the sequencing of around 1m genomes as part of an effort to refine the “reference genome”, a blueprint used by researchers. But less than 2% of all sequenced genomes are African, though Africans are 17% of the world’s population. “We must fill the gap,” argues Dr Wonkam, who has proposed an initiative to do just that—Three Million African Genomes (3MAG).
