And congratulations with the Women in Science Award that you won!

We were then invited to attend the Sub-Saharan Africa Young Talents awards in Cotonou, Benin in December 2024 which celebrated 30 young female scientists from all over Sub-Saharan Africa. We spent the week attending workshops and training sessions with a bit of fun in between. Our sessions covered topics such as ethics, negotiation, harassment etc. These sessions were both educational and empowering. It was definitely an eye-opening week for me as well. I learned a lot about the disparities that the other female researchers face in their countries. It highlighted the urgent need to democratize scientific research across the continent. Overall, it was an incredible experience that solidified my commitment to advancing science and supporting fellow female researchers across Africa.

How is treatment and care for children and adults with OI organized in South Africa?

In South Africa, the diagnosis of OI is typically made by medical geneticists, orthopedic specialists, or pediatricians based on a patient’s clinical and radiographic findings. Genetic testing, which is vital for confirming diagnoses and guiding treatment, is available through private laboratories, tertiary academic institutions, and direct-to-consumer services. However, access is glaringly unequal, with more rural areas lacking facilities, forcing patients to travel long distances.

Efforts like the National Clinical Guidelines for Genetic Services attempted to address this by developing standards to guide the establishment of regional and specialized genetic services. Despite this effort, underdiagnosis and misdiagnosis remain a common issue.

The gold standard of bisphosphonates is not always feasible for many in our population due to factors like high costs and the need for consistent access to clinics or hospitals. As a result, patients often rely on whatever treatments or resources are available at nearby clinics. Those fortunate enough to receive a genetic diagnosis can be referred to genetic counsellors who provide families with continued support and guidance.

Currently, there are no centers of expertise for OI in South Africa. Patients can contact Brittle Bones South Africa (BBSA) on Facebook for community support. This organization is led by Rageema Livingstone, a mom to a daughter with OI. Clinicians and researchers can refer patients to Professor Shahida Moosa. Unfortunately, there are also no national guidelines or registries for OI, reflecting a broader gap in addressing rare diseases. Initiatives like the Rare Diseases Access Initiative (RDAI) are promising, by aiming to enhance diagnosis, treatment, and healthcare access for all rare diseases.

The biggest challenges in terms of treatment and care include limited awareness and expertise, inequitable access to testing and care, the absence of national registries, and a lack of standardized guidelines. Despite these challenges, there have been positive developments, including increased awareness and advocacy initiatives. Additionally, academic research has significantly increased, leading to the development of improved sequencing and diagnostic tools enabling faster and more accurate diagnoses.

Access to treatment and care for children and adults with OI is a big challenge in most African countries – what is the most important thing we can do to improve this?

There is so much that can be done to improve access to treatment and care, and they are all equally important. An overarching idea that can be done is to make rare diseases a national priority in South Africa. For OI specifically, educating healthcare professionals is essential to enable earlier diagnosis, better treatment, and effective management.

A stronger focus on research is necessary to understand the prevalence of OI and the unique needs of patients within our population. This data can play a pivotal role in influencing policymakers to prioritize rare diseases and allocate resources more effectively. Ultimately, this could result in the development of national guidelines or frameworks for the treatment and care of OI patients and by extension, other rare diseases.

You are now doing a PhD about a novel multi-omics tool to enhance the investigation of disease mechanisms? Tell us about this!

My PhD research focuses on developing an innovative multi-omics tool to study the underlying causes of complex genetic diseases. Genetic diseases typically involve interactions between genes, proteins, and other molecules within the body. These can be seen like parts of a puzzle that must be put together. Traditionally, we would only focus on one piece of the puzzle, giving us a limited view of the whole picture. My tool aims to integrate multiple pieces of the puzzle by including genomics (DNA), transcriptomics (RNA), and proteomics (proteins) to uncover a clearer and more complete picture of what drives these genetic disorders.

I’m currently testing this tool using data from patients with Amyotrophic Lateral Sclerosis (ALS). Hopefully, by analyzing multiple layers of data, my tool can pinpoint the mechanisms driving this disease. The potential of this tool goes far beyond ALS. Once validated, it could be used to study a wide range of genetic disorders from various populations. Ultimately, I envision this tool becoming a valuable resource for researchers worldwide, not only to understand the mechanisms of complex diseases but also to identify new targets for treatments.

Are you working with the national OI-organization in your country?

Currently, I am not directly working with Brittle Bones South Africa (BBSA) or other organizations in South Africa. I recently developed a rare disease dashboard called RareInsight during a codeathon. This experience highlighted the significant lack of resources available for those affected by rare diseases in South Africa, including the absence of organizations. It has underscored the importance of advocacy and collaboration in building better systems for rare disease patients in our country.

What would be your dream project (irrespective of funding)?

My dream project would be to apply my PhD research to directly benefit South African patients. I would love to use my multi-omics pipeline to uncover novel disease-gene associations, particularly for orphan diseases, within our diverse population. A key part of this project would involve recruiting a large cohort of patients. This would not only provide the data needed but also enable the creation of a comprehensive database of rare diseases in South Africa, further developing my RareInsight initiative. Achieving all of this would rely heavily on networking and collaboration with healthcare providers, researchers, and patient advocacy groups. Overall, I hope to contribute to making genetic testing and precision medicine more accessible and equitable for South Africans, regardless of their socio-economic status.

What do you do in your spare time?

I’ll admit that I struggle to take regular breaks for hobbies and rest. However, when I do manage to step away, I enjoy catch-and-release fishing. It has been a hobby of mine since a young age thanks to my dad and siblings. It’s my favourite way to escape work, disconnect from social media, and recharge in nature. I also have a deep appreciation and love for ballet and take classes whenever I can. I’ve been practicing ballet on and off since I was five years old, and it taught me invaluable lessons about discipline, focus, and respect, while being a beautiful artform. I am also very passionate about social outreach. I love mentoring school students, especially encouraging them to pursue STEM fields. It’s incredibly rewarding to help inspire the next generation of scientists.

This article has first been published in OIFE Magazine 1-2025