Genomic medicine promises to revolutionise healthcare, but Africa remains dangerously underrepresented in the data that drives it. This gap leaves thousands of families without answers and, too often, without hope. At the North-West University’s (NWU) Mitochondria Research Laboratory and the National Metabolomics Platform, Dr Maryke Schoonen is determined to change that.
“My research focuses on uncovering the genetic causes of rare diseases in African patients. This is vital because African populations remain vastly underrepresented in genomic studies, despite holding the greatest genetic diversity in the world. Without African data, many rare diseases go undiagnosed, leaving families without answers or treatment options,” she explains.
Her motivation is personal as well as professional. “During my PhD, I worked with children who had severe neuromuscular and mitochondrial symptoms but no clear genetic diagnosis. That experience was a turning point for me. I saw firsthand how devastating it is for families to live without answers. It motivated me to join the International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD, University College London), where I trained to interpret genetic variants and link them to patients’ conditions.
“What drives me is the knowledge that a diagnosis can change everything. Even when a cure does not yet exist, it can guide symptom management, connect families to support, and end the exhausting diagnostic journey. And for some rare diseases, where treatments or cures are available, identifying the cause as early as possible can make a life-changing difference. That’s why I am committed to this work, because every answer brings new hope to a family.”
New variants, new insights
The study’s findings highlight the risks of treating European or North American genetic data as universal. “One of the most striking discoveries was that the genetic causes of rare diseases in South African patients do not always mirror what has been described in European, North American or Asian populations. For example, in children with congenital myopathies — rare muscle disorders that cause weakness from birth — we found new and unexpected genetic variants that had not been described before.
“These findings are profound because they not only expand our understanding of congenital myopathies globally, but also prove how essential it is to study African populations. Without this work, many of these families would still be searching for answers. By identifying the underlying causes, we can guide symptom management, connect families to support, and in some cases, open the door to treatments that already exist. They also highlight the urgent need to build African-driven initiatives, like the Nngwe Programme, where one life matters, and global collaborations such as the ICGNMD, to make sure African patients are represented and benefit from cutting-edge science.”
From the lab to the clinic
The challenge now is to translate these findings into equitable access. “I’d like to see our findings help build equitable access to genetic testing in South Africa. By using results from the Nngwe Programme, clinicians can shorten the long diagnostic journey families face. On a policy level, I hope both Nngwe and ICGNMD findings will drive investment in local infrastructure, training, and healthcare systems so that South African and other African patients benefit directly from genomic medicine.”
A call to researchers and policymakers
Dr Schoonen is clear about the role of young scientists, especially women. “Your voice matters. Be bold in asking questions that others overlook, and don’t be afraid to challenge the status quo. Find mentors who champion your journey. I was fortunate to have that in the ICGNMD, and then pay it forward. Women in science are not just participants; we are leaders shaping the future.”
Her message to South African policymakers is equally uncompromising. “Genomic medicine should be treated as essential healthcare, not a luxury. Policymakers need to invest in local programs like the Nngwe Programme, support African scientists, and protect our data sovereignty. With these steps, South Africa can move from being a consumer of genomic knowledge to a global leader.”
The bond between science and humanity
For Schoonen, the science is inseparable from the people it serves. “Behind every study is a family searching for answers. The trust that families place in initiatives like ICGNMD and Nngwe inspires me every day. My hope is that our research not only advances science but also restores hope to communities that have long been overlooked.”
