Diversity is in the DNA

Posted: 11th April 2022

Bioinformatician and PhD student Neke Ibeh has a vision for a world where all people, regardless of their background, can equally benefit from cutting-edge advances in genomic medicine. 

“We are on the cusp of massive advances, particularly in being able to personalise medicine based on factors like individual genetics – your genome. But for everyone to benefit, we need to have equal knowledge and references for people of all ethnicities and backgrounds.” 

Ethnic diversity is a massive challenge in analysing the human genome. “More than 80 per cent of the data used as a comparator in genomic research – the ‘reference genome’ – is typically Caucasian,” says Neke. “If you come from another ethnic group, your genome will be much harder to analyse – markers might get misinterpreted or even missed altogether.” 

Neke’s work is helping to change this, by investigating and documenting some of the huge genetic diversity within the world’s fourth largest population: Indonesia. 

“In the jigsaw puzzle of human genetics, Indonesia is largely a gap,” says Neke. “I’ll be investigating a well-documented set of 120 blood samples from across the Indonesian archipelago, spanning the genetic ancestry of homo sapiens in the region.” 

Indonesia is a known cross-roads in human diversity, with multiple waves of migration of modern humans starting around 72,000 years ago. 

Neke’s deep computer analysis of genomic data from the blood samples will help identify markers for disease risk, as well as normal healthy variation in genetics among the Indonesian population. 

“I’m really excited to be able to apply my skills to start to fill in some of that massive gap in our knowledge,” says Neke. “Once the analysis is done, my plan is to compare the findings with what we know about European genomic references so we can better characterise population-specific variation on a global scale.” 

“Working in a research setting at Princess Margaret Cancer Centre in Canada opened my eyes to the many projects where I could potentially apply my skills – at the nexus of computer science, satistics and biology,” she says. “I want use my expertise and gain new skills, while addressing important biological questions.” 

“I’m passionate about ensuring equality for all peoples in the diagnosis and treatment of disease. Having your DNA properly understood and represented is a basic human right.” 

Neke Ibeh was awarded a prize for presentation of her research at the Lorne Genome conference in February.