Nadia Carstens

Medical scientist, Wits NHLS Division of Human Genetics

“Our job as geneticists is to find disease genes. The ultimate aim of this research is the development of new diagnostic tests, therapies or improved counselling so that we can help a patient to make an informed decision that would benefit not only them, but their family as well,” explains young medical scientist and geneticist Nadia Carstens.

“It can sometimes take a couple of decades to translate research into a tangible clinical outcome, and I focus myself by remembering that we are ultimately doing this work to improve the lives of patients who are not receiving the care they deserve at the moment.”

 Carstens was born in the small town Vredendal on the west coast, but her pursuit of genetics has lead her to some pretty interesting places (and people). She is currently based at the Wits/NHLS Division of Human Genetics in Braamfontein, which allows her to apply her bioinformatic skills to find new disease genes and develop new diagnostic tests.

Carstens studied at Stellenbosch University but moved to the University’s Tygerberg campus for her MSc and PhD. She traded the microscope for a computer shortly thereafter when she joined the Sydney Brenner Institute for Molecular Bioscience as a bioinformatics postdoc.

 I enjoy detective novels, which is perhaps why I love research into monogenic disorders so much. In monogenic disease research we usually start with hundreds of thousands or even millions of DNA variants as the ‘suspect pool’. We then need to apply our knowledge of the disease and bioinformatic techniques to identify the most probable ‘suspect’ or disease-causing mutation,” she adds.

 Carstens strongly believes that African researchers should champion research on African populations and that bioinformatics (the application of computer technology to the management of biological information) is the key to advancing genetics in Africa.

“We can leverage global resources to do experiments and analyse the data locally if we have the requisite bioinformatics skills and capacity. This means that we can contribute to global research as active participants and not mere sample providers, despite limited resources,” says Carstens.

“I really enjoy monogenic and rare disease research and I’ve decided that this is where I want to leave my mark.” — Tiana Cline