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#WomenofSU: Top SU geneticist unlocks mysteries of rare diseases for patients and students
Author: Corporate Communications and Marketing (Hannelie Booyens)
Published: 24/08/2023

​​​In celebration of Women's Month, Stellenbosch University is shining a spotlight on the exceptional women of our institution. As we celebrate the remarkable achievements of female academics with this series of profiles, we also illuminate the transformative power of mentorship. Through their own experiences with mentors, these distinguished members of staff have not only excelled in their fields but also embraced the vital role of mentoring, guiding and inspiring younger colleagues and students towards success, fostering a more inclusive and empowered academic community. 

Prof Shahida Moosa exudes the kind of joie de vivre you'd expect from a lottery winner or someone who's just summited a very high mountain. When you get to know the exceptional scientist, you realise why both analogies are spot on. She considers herself fortunate to be doing the work she loves, and it's been an uphill but exceedingly rewarding journey to the top of her academic field.  

As an internationally trained clinician-scientist and head of the Rare Disease Genomics research group at Stellenbosch University's (SU) Faculty of Medicine and Health Sciences, Moosa combines clinical work as Head of Medical Genetics at Tygerberg Hospital, where she regularly sees patients, with cutting-edge research into undiagnosed rare diseases.  

Essentially, it means that she has two full-time jobs. On top of that, she's also a prolific teacher who mentors a large and growing group of mostly young female scientists, not only at the Division of Molecular Biology and Human Genetics at SU but across Southern Africa.  

Moosa's stature as an academic is illustrated by the fact that she was recently a finalist in two categories of the National Science and Technology Forum (NSTF) Awards. “Because I'd studied overseas for long, I didn't quite realise the NSTF Awards are like South Africa's science Oscars! It was such an honour to be nominated. My mom, Aziza, and sister Raazia went with me to the awards ceremony, and we had a lovely time." 

After completing her specialist training at Wits University, Moosa obtained her PhD in Germany (summa cum laude), followed by a postdoctoral fellowship at Harvard Medical School and Boston Children's Hospital in America. 

The concept of a clinician-scientist is quite new in South Africa, she explains. “It means you studied medicine, did your specialty and then also a PhD. After completing my medical degree, I became a medical geneticist. I was actually the first doctor in South Africa to do genetics as a primary specialty. Previously, you needed to become a paediatrician or an obstetrician and then do genetics. Although the clinical training in South Africa is excellent, the laboratory side of things here is not on par with the rest of the world, that's why I decided to go to Germany." 

At the University of Cologne, Prof Bernd Wollnik became a vital mentor. “He used to give me carte blanche to do whatever I wanted in the lab – no idea I came up with was ever too crazy for him. And he involved me in a lot of clinical work. He helped me optimise all my skills so I could excel in all the fields I was exposed to." 

Another academic, Prof Ida Vogel from Aarhus University Hospital in Denmark, assisted Moosa in getting a grant to complete her PhD research. “Ida has been incredibly supportive of my career ever since and we've become good friends. There are certain people at every juncture in my life that I wouldn't have been able to do things as easily or as successfully had they not supported me unconditionally." 

The primary reason why she came back after studying abroad was to make a difference for South African patients, Moosa explains. Close to 80% of rare diseases are genetic in origin and are collectively estimated to affect up to four million South Africans. Most of these conditions have their onset in childhood and are chronic and disabling. Moosa strives to provide world-class care locally to individuals and families with rare diseases, so they don't have to travel abroad to find answers. She's also passionate about bringing genomic expertise to Africa so medical students and scientists can be trained locally. 

In 2021, Moosa established sub-Saharan Africa's first Undiagnosed Disease Programme (UDP). The UDP is transforming patient lives and provides unique opportunities for capacity building and training for the next generation of genomics experts in southern Africa. The success of the programme has been phenomenal. By using genome sequencing, half of the patients that have been tested so far at Tygerberg Hospital have received a diagnosis. Just this Women's Month, Moosa was awarded the 2023 John M. Opitz Young Investigator Award for the most significant contribution to the American Journal of Medical Genetics, for the publication reporting on the success of the UDP.  

Moosa's groundbreaking work was given further impetus when she was recently appointed as co-leader of the newly established Africa/European Union Cluster of Research Excellence, Genomics for Health in Africa. “I co-lead the cluster with Prof Tulio De Oliviera. While my focus is on rare diseases and cancers, his focus is on infectious diseases. We're combining the two to drive forward health solutions for not only South Africa but the continent. A big part of that is also training and leadership and development of young people. I'm fortunate to be a mentor in many different parts of my job, whether it's in the hospital, the laboratory or in the community." 

Moosa has been working tirelessly to integrate genetics, a field that is developing at breathtaking speed internationally, into the curriculum at SU. “Whichever medical discipline students will end up specialising in, they're part of a generation of doctors who'll need to know something about genetics and genomics. We've revamped the whole curriculum to bring it up to date with the newest techniques and technological developments."  

She is grateful for the support she receives from the Early Career Academic Development Programme at SU and she credits Profs Helena Kuivaniemi and Karin Baatjes for the invaluable guidance and mentorship they've given her.  

When she joined SU at the end of 2019 Prof Jimmy Volmink, then Dean of the Faculty of Medicine and Health Sciences, played a significant role in encouraging her to forge ahead and excel despite the challenges at SU and Tygerberg Hospital. He continues to mentor and support her. 

Outside Moosa's office in the brand-new Biomedical Research Institute on the medical campus, there is a wall with photos of all the young researchers she leads in their journey to unlock the mysteries of human genetics. The first thing you notice is that bar two, all of them are women. Moosa has made a concerted effort to bolster female researchers in a field that is still very much male-dominated.  

Almost all her students have graduated cum laude, she says with a big smile. “I'm so proud of all of them. Jessica Cormick is currently one of my star MSc students. She's doing groundbreaking research and she brings so much joy and enthusiasm to our research group."  

Mentoring is never a one-way street, Moosa notes. She's inspired by her students' resilience and their commitment to not only academic excellence but also supporting each other, their families and their communities while dealing with financial and everyday challenges. It's clear that her students are also inspired by her example of prioritising patient needs while setting the highest possible standards for clinical care and research.  

With everything she has on her plate, Moosa says it takes careful planning to unwind. She enjoys going for walks and swimming, but due to a shoulder injury, she can't currently do vigorous exercise. Painting is a hobby she tries to make time for, but if she doesn't get around to it, she finds joy in small things. “Sometimes a wildflower is all it takes to make me happy. I find meaning in religion and a connection to God. I'm very close to my family, which is good for my mental health." 

Both Moosa's siblings, Raazia and Sumayya, have PhDs too and the formidable sisters are clearly grateful to have a cheerleader mom in their corner. “My mom always says: 'Don't give up. Just keep going, keep going!'"  

As a woman, she's had to fight a bit harder in the scientific world, Moosa admits. She mentions a recent incident when a male plastic surgeon who was visiting patients in a ward assumed she was a junior staff member. She laughs as she describes how the young registrar visibly gasped when it dawned on him who he was talking to.  

“While the playing field is not quite level women in science, we need to find ways to become more resilient and look after ourselves, whether it's as mentors and students or part of networks of peers. We need to forge ahead because the future of science is female and diverse." 

Although Moosa's expertise and academic achievements equip her with the freedom to work anywhere in the world, she is blissfully happy where she is now. “This particular building on this particular campus of this particular university is exactly the place I need to be," she says.​

PHOTO: Stefan Els