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A significant milestone in research funding has been achieved at the University of Cape Town (UCT), with Dr Melissa Nel and Associate Professor Esmita Charani named as this year’s recipients of the prestigious Wellcome Career Development award.

Dr Nel and Associate Professor Charani’s recognition marks the start of pioneering research set to profoundly improve health outcomes in Africa.

The Wellcome Career Development award funds mid-career researchers from any discipline, enabling them to bring about substantial changes in knowledge that have the potential to enhance human life, health and overall well-being.

Both Nel and Charani’s research is centred on the African context, with Charani also extending her focus to include India, particularly in marginalised communities. Their scientific contributions are anticipated to have a significant impact given the existing research gap in their specific areas of interest.

Nel is a trained doctor and a Neurogenetics and Neuromuscular Disorders researcher in the Department of Medicine at UCT’s Neuroscience Institute. Charani is a trained clinical pharmacist and Associate Professor at the Division of HIV Medicine and Infectious Diseases and a contributing researcher at the Wellcome Centre for Infectious Diseases Research in Africa. Both entities are based in the Faculty of Health Sciences.

Nel’s research focuses on Amyotrophic Lateral Sclerosis (ALS), a disease without a cure. The aim is to investigate the genetic factors related to ALS in African populations, ultimately contributing to global efforts in understanding the disease’s underlying causes and in this way develop the means to prevent or cure it.

Genomic Research Gaps Impact ALS Diagnosis and Treatment in Africa

Dr Melissa Nel
Dr Melissa Nel

Although ALS is reported to be less prevalent in Sub-Saharan African populations compared to North American, European and Asian populations, limited access to healthcare and under-diagnosis suggest that the true extent of ALS in Africa remains largely undocumented.

Nel explained: “There is a lack of inclusivity and equity within the ALS community. Until a cure is found, expanding access to clinical trials is crucial to offering hope and improving quality of life for ALS patients and their families. Performing this genomic research on African ALS patients is an important first step to promoting the equitable participation of Africans in emerging ALS therapeutic trials.”

The effectiveness of prospective treatments can vary depending on factors such as age, sex and ancestry. Without including diverse populations in clinical trials, researchers can’t be sure that a treatment works in different populations. This can lead to adverse consequences such as poor efficacy in certain groups.

While genomic research on the continent has increased, Nel makes the case that more needs to be done to translate these findings to benefit patients, particularly in the diagnostic setting. For example, genetic testing of ALS genes is common in first-world settings but not readily available locally, outside of participation in research studies. Additionally, the lack of accessible genomic reference data in Southern Africa complicates the clinical interpretation of diverse African-ancestry genomes, which harbour many unique DNA variants.

Ethical community engagement and African leadership in Genomic research

In the era of seeking broad consent for data sharing in genomic research, community engagement is a critical ethical practice. Nel explained that key to this is the informed consent process, which must effectively convey scientific concepts while clearly outlining the research’s purpose, associated risks and benefits to both individuals and the community. In addition, in Africa’s multicultural and multilingual context, securing informed consent requires respect for autonomy, privacy and addressing language barriers.

Diversity and inclusion are powerful drivers for conducting genomics research in previously understudied African populations. Nel emphasises the equal importance of African genomic research. It is key in addressing locally relevant questions to benefit future African patients. While emphasising the crucial role of African leadership in advancing accessible and affordable genomic medicine to leverage resources and build local capacity.

“Until a cure is found expanding access to clinical trials is crucial to offering hope and improving quality of life for ALS patients and their families.”

“This investment will allow me to grow my Neurogenomics Lab at UCT’s Neuroscience Institute, conduct a translational research project that will hopefully tangibly improve clinical care for ALS patients in Africa and contribute to the training of postgraduate students in genomics and bioinformatics.”

Inequality in healthcare access

The research conducted by both Nel and Charani addresses the impact of inequality on healthcare access, albeit in different ways.

Charani’s research examines the impact of power dynamics, hierarchies, and healthcare-seeking behaviours in hospital settings across diverse cultural contexts.

“Anti-microbial resistance (AMR) is the other pandemic we are experiencing [in addition to COVID-19]. It is of global concern and very different to other health threats as the message of using antibiotics effectively has not been well delivered or received.”

Antibiotics, power and inequality

Associate Professor Esmita Charani
Associate Professor Esmita Charani

Antibiotics thrive in the belief that they are a universal cure-all, a point highlighted by Charani, who also notes that this was how antibiotics were marketed when first discovered during World War II.

Antibiotic use is a social process. It is mainly this social complexity, that prompted Charani to conduct her research through a sociocultural lens.

“Widespread infections compel prescribers to make frequent treatment decisions leading to complex social expectations surrounding antibiotics, including the belief that they should always work and that all prescribers should be well-versed in infection treatment. Sociocultural research offers insights into these complexities, aiding understanding and the development of tailored solutions across diverse populations and contexts,” Charani explained.

“AMR is not a problem that can be fixed in one corner of the world, we need to have a broad and long vision and develop networks of excellence and research globally,” she said.

Her research is located where inequality is prevalent. She has been working with colleagues in Kerala, Chandigarh and Bangalore, with Professors Sanjeev Singh and Nusrat Shafiq. UCT colleagues include Professors Marc Mendelson and Sipho Dlamini. Since 2016 they’ve been collaborating on better understanding how antibiotic use for human populations is optimised.

“Infectious diseases spread through factors like water access, sanitation, hygiene and vaccination disparities – often tied to broader inequalities. These inequalities, rooted in gender, ethnicity, race and caste have significant impacts on our lives, including health.” This is the relationship between inequality and infectious disease.

Limited research has explored how these various identities intersect with power dynamics in healthcare, especially among nurses, doctors, and pharmacists influencing healthcare delivery.

“Sociocultural research offers insights into these complexities, aiding understanding and the development of tailored solutions across diverse populations and contexts.”

The inequalities Charani listed influence power and can shape how healthcare is both provided and received.

“These questions have broad relevance, with infections and AMR serving as a starting point for inquiry,” she said.

Charani envisions that the knowledge gained from her research will be used to design, implement and measure the effects of solutions that specifically work in different populations. While also providing a toolkit for advocacy for actors in AMR and health to assist in promoting policy dialogue on this issue. This work directly benefits the target population and informs healthcare services and practice across the participating countries with potential for wider translation.

Creating lasting impact

Both Charani and Nel, in their distinctive research topics, aim to address the crucial issue of healthcare inequality, marking a significant leap forward in advancing medical knowledge and improving healthcare access. Their pioneering research efforts are set to have far-reaching implications not only in Africa but globally, shaping the future of health sciences and disease prevention.

JANUARY 2024 | STORY LINDA DANIELS. PHOTO SUPPLIED.