Novel R&D tool to unravel genetic diseases in Africa


A new research tool — genomics array — developed specifically for genomic and epidemiological research in Africa could enable researchers efficiently look at genetic diversity of African populations.

Africa is the birthplace of human evolution, and has the highest amount of genetic variation but most existing genotyping tools are for European populations, according to Julie Collens, who is responsible for market development within Illumina, a US-based organisation involved in genomics research and the development of the tool.

‘This tool will not only be critical for understanding African diversity and how that correlates to disease in Africa, but could potentially improve our understanding of disease and diversity in other global populations,’ Collens adds.

Collens said last month (16 December 2016) that members of the Human Heredity and Health in Africa (H3Africa) consortium selected content from samples previously obtained from Africa and evaluated with more comprehensive genome sequencing with support from UK’s Wellcome Trust and the US National Institutes of Health.

‘The objective,’ she said, ‘was to characterise genomic diversity in African populations and to try to understand how the genomics relates to diseases and disorders that affect these populations.’

The application of genomics in Africa has been underrepresented, says Colleen, noting that the array is expected to be available later in 2017.

Because of the differences between global populations in rates of infectious disease risk, having the ability to link genetic findings in African populations specifically to the diseases that are most likely to affect those same populations will be key in understanding how genetics and the environment contribute to diseases, according to Collens.

‘Understanding disease and genomics in the context of specific populations affected allows researchers to develop specific interventions, preventative measures, and treatments,’ she explains.  ‘This array will be an important step forward in filling the present gap in our understanding of genomic diversity in Africa and in understanding the genetic factors contributing to disease.’

Michèle Ramsay, a professor at the division of human genetics, University of Witwatersrand in South Africa, says African populations are genetically diverse and the tool will be very useful for African researchers in conducting genome-wide association studies in multiple African populations for many different traits and diseases.

‘It will be the best array developed to date for this purpose and I hope it will be widely used, not only by members of the H3Africa consortium,’ says Ramsay, who is exploring genomics and environmental health risks as a project within the H3Africa consortium. ‘It will take some time for the research findings and new knowledge to have an impact on healthcare provision, but we are always keeping our eyes open for important discoveries that can be translated into a clinical setting.’

But Ramsay says that the development of the H3Africa array is still expensive. The appropriate implementation of tests in a healthcare setting requires additional funds and skills, so it can be a long process.

This is the reason that we need to develop more capacity for genomic and molecular research in Africa, Ramsay adds.

Written by SciDev.Net’s Sub-Saharan Africa English desk. This story was sourced from the SciDev.Net website.


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