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Fasil Tekola Ayele: Genomics of Podoconiosis

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Recommended by: Charles Rotimi, National Human Genome Research Institute

Before becoming a geneticist, Fasil Tekola Ayele worked in public health. In particular, he focused on a disease called podoconiosis that is marked by swelling of the feet and legs. While podoconiosis is triggered by exposure to volcanic red clay soil, only a portion of people exposed to the irritant develops the disease. Families, though, tend to have a number of affected individuals.

The disease also carries a social stigma, leading to poverty for those affected and their families. "Because multiple individuals in the family are affected, the family becomes impoverished and the cycle of poverty continues along generations," Ayele says.

Now a postdoc at NHGRI, Ayele is continuing to study podoconiosis as well as other complex diseases like type 2 diabetes in Africans and African Americans, with an eye toward public health.

While genomics, Ayele says, has the potential to inform and improve public health, it's not quite there yet. "Genomics has been translated into clinical medicine for rare diseases, but for common and complex diseases — like podoconiosis, type 2 diabetes — translational genomics into public health is challenging and that takes time," he says.

Paper of note

Last March, Ayele and his colleagues reported a link between HLA and podoconiosis susceptibility in the New England Journal of Medicine. Based on data from a genome-wide association study, family-based association testing, and HLA typing, the researchers found that variants in HLA class II regions near HLA-DQA1, HLA-DQB1, and HLA-DRB1 were associated with podoconiosis. This, Ayele points out, suggests that podoconiosis may be a T-cell mediated disease.

And the Nobel goes to…

If he were to win the Nobel Prize, Ayele says he'd like it to be for helping people with stigmatizing or preventable diseases. "Having global attention for those patients and for research conducted on those diseases is, I think, an honorable fight for me if I could contribute to that," he adds.

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