Unlock the secrets that save lives of African DNA

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The researchers then sought to test the thesis by identifying subjects with a rare mutation resulting in even lower rates of PSCK9. Only two people were found, including a young woman living in South Africa.

The location of the South African subject was not by chance.

Your ultimate guide for home DNA test kits

Such variations have the potential to reveal information that can be used to develop treatments for health problems that affect Africans and non-Africans.

But scientists say that African DNA is largely excluded from the field of genomics, the study of complete gene sets.

& # 39; Lack of ethnic diversity & # 39;

Research published earlier this year showed that only 2% of the samples used in the genome association studies were from Africans and 78% from Europeans. This imbalance can inform the production of treatments that do not work for non-Europeans.
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"Calculations developed on the basis of evidence mainly from European populations might not apply to people of other ethnicities," wrote the study's authors.

"Lack of ethnic diversity in human genomics studies means that our ability to translate genetic research into clinical practice or public health policy may be dangerously incomplete or, worse, erroneous."

The authors of the study called for the creation of ethnically diverse biobanks to address the imbalance.

Francis Osifo and Abasi Ene-Obong co-founded 54gene earlier this year to continue the study of African genomics, an under-explored area so far.
A project of this type is already under way and is progressing rapidly: the Nigerian start-up specialized in health technologies, 54gene, presented as "the first pan-African biobank in the world", with the mission to take up some of the most serious problems of health of the continent.

Build a network

54gene was launched earlier this year in Lagos. Co-founders include Abasi Ene-Obong, a veteran of the US pharmaceutical companies with a Ph.D. in cancer biology, and Francis Osifo, a technology entrepreneur whose clients include Visa and Microsoft.

The founding members recruited specialists from around the world, attracting Nigerians from the diaspora of companies such as Cancer Research UK and the World Bank.

The team began with a pilot project in three Nigerian hospitals, obtaining the necessary regulatory and ethical approvals to allow doctors to obtain 6,000 blood and tissue samples.

54gene has partnered with more than a dozen hospitals in Nigeria and plans to expand to several other African countries.

The project has since been extended. Osifo says that there are now partnerships with 17 hospitals and that the goal is to collect 40,000 samples by the end of the year, reaching 200,000 by 2020.

54gene makes the genetic material of its biobank available to pharmaceutical companies and academic and clinical researchers to facilitate the development of healthcare solutions. The main treatment targets include cancer, cardiovascular disease and neurodegenerative diseases.

"We want as much data as possible to get unique information," said Osifo. "We have thousands of cancer cases in Nigeria, but little research on mutations to develop new treatments and therapies."

Part of the work of 54gene is to develop diagnostic facilities in African countries. Currently some samples have to be sent abroad for testing.

"There are no data sets to produce new drugs and to fill this gap, we need a wide range of test subjects," he said. adding that hospital patients were generally happy to offer their DNA. "They know that if we can find solutions, it will not only help them, but also the wider communities of Africa and the world."

Osifo points out that the study of African DNA can have benefits that go beyond Africa, as demonstrated by the case of Praluent.

Catnip

54gene's progress has quickly attracted the interest of investors.

The company was recruited as part of a Y Combinator accelerator program. In July, she raised $ 4.5 million in seed money from venture capital firms, a record for a Nigerian start-up in the health sector. Sponsors included Y Combinator, Fifty Years, Better Ventures and Hack VC.

"By building more inclusive datasets, 54gene will help democratize molecular medicine while opening up perspectives that will lead to better therapies for all," said Seth Bannon, founding partner of Fifty Years.

"We have supported 54gene because they can not only generate huge profits, but can also help to level the playing field in genetics."

The company has also been selected from among thousands of applicants for the Google for Startups accelerator program, which will benefit through mentoring and fundraising from the software giant, as well as from access to Google technology.

The 54gene team in Nigeria, the company's operating base.

Osifo says the plan is to strike while the iron is hot thanks to the expansion of operations and new markets.

"We are evolving very quickly and our team is expanding," he said. "We have a commercial team in the United States, most of our operations are in Nigeria and we are trying to penetrate other African markets."

The team hopes to start work soon in Rwanda and Botswana, while strengthening its presence in Nigeria.

Cultivate an ecosystem

Osifo says that there are specific challenges to creating a health technology company in Nigeria compared to the United States and Europe.

Highly skilled workers are often tempted by jobs abroad and entrepreneurs must play a role in developing the necessary infrastructure rather than relying on a pre-existing framework.

54gene has launched its own advanced diagnostic laboratory in the absence of a comparable facility, which supports local hospitals as well as its own work. Currently, the company must send DNA samples abroad for sequencing, but this could soon be purchased internally.

This at least has the advantage of developing the broader health sector, and Osifo is confident that other entrepreneurs will follow the example of 54gene. Several Nigerian health care start-ups, such as Helium Health and MDaas Global, have secured funding over the past year, suggesting that the sector could be ripe for growth.
Osifo with Chief of Staff Abi Galadima (center) discussing their work at a recent Google event in London.

Jenniffer Mabuka-Maroa, head of genetics at the African Academy of Sciences (AAS), who is pursuing her own biobanking initiative, also appears to be showing increased interest in African governments.

"Governments are slow, but they come to understand," she said, adding that scientists needed to be more effective in communicating the value of their programs. "The data showing the money saved through an intervention will be (for them) easy to buy.We also need some scientists in government offices to help us move this agenda forward."

54gene and their new Google partners are talking about creating "ecosystems" in African markets – a virtuous circle with mutually reinforcing links between investors, entrepreneurs and state institutions, which can improve 39, education, employment and outcomes for patients.

The study of African genomics remains under-explored, but rich in promise.

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