It was in a neonatal ward that a young medical officer encountered a puzzle that would reshape her career and help transform genomic medicine across Africa.

“It was a genetic diagnosis, and from that moment, I never looked back,” recalls Prof Shahida Moosa, winner of the NSTF-SAMRC Clinician-Scientist Award. “That experience showed me the profound power of a diagnosis — not only for the child, but for the entire family.”

Now head of medical genetics at Tygerberg Hospital and Stellenbosch University, Moosa is creating spaces where patient care and scientific discovery go hand in hand. With her team, she is working to ensure African families are not left behind in the global genomics movement — even when conditions are rare and answers hard to find.

“I always imagined I would become a paediatrician, but I found myself drawn to children with complex, unexplained conditions,” she says. “These were the patients for whom every test came back negative, and standard treatments offered little relief.”

Many of these cases had an underlying genetic basis. “I became acutely aware early in my career of the stark inequities patients face across the country. While the rest of the world embraced genomic medicine, I was limited to outdated tests that often didn’t reflect our population’s diversity.”

Even today, only a handful of clinics across sub-Saharan Africa offer specialised testing. “And yet, rare diseases affect more than 100 million people on the continent — more than the combined number living with HIV and TB. I meet these families every day. I couldn’t, and wouldn’t, walk away.”

After earning a PhD in Germany, she returned to South Africa to launch Genomics for Health in Africa (GHA), a programme offering free genetic testing and counselling, while training the next generation of African genomic scientists. “What began as a single-centre initiative has grown into a multinational programme providing not just access to medicine, but also knowledge, empowerment and community.”

One moment stands out: a mother who had blamed herself for her child’s condition for 21 years, thinking it was caused by cheese she ate during pregnancy. “When I explained it was genetic and not her fault, she broke down in tears. That reminded me why this work matters. Diagnosis isn’t just science — it’s healing.”

She also launched Africa’s first Undiagnosed Disease Programme and is pioneering the use of artificial intelligence to help clinicians identify rare conditions, even in remote settings. “By including African patients in these tools, we’re improving outcomes not only here, but for patients globally.”

Her advice to future changemakers? “Start with purpose, lead with empathy and never wait for permission. If the systems don’t serve your patients, build new ones — and bring others with you.”

Winning the Clinician-Scientist Award of the prestigious NSTF-South32 Awards, she says, brings visibility to the need for equity in genomics and the prioritisation of rare diseases: “We are proud to be part of a new era that moves beyond extractive, ‘helicopter’ science. The question is no longer whether we can do this in Africa, but how far we can lead.”

Read the special Mail & Guardian supplement about all the NSTF-South32 Award winners.