Africa’s genetic diversity offers unique opportunities for global genomic research, but the continent remains underrepresented in global genetic databases.
Key Points:
- Stellenbosch University (SU) is leading groundbreaking genomics research in Africa, contributing to global studies on ultra-rare diseases.
- The Rare Disease Genomics research group at SU is the first of its kind in sub-Saharan Africa, pioneering genetic medicine and large-scale genomic sequencing research.
- Genetic testing and research in Africa can lead to more accurate diagnoses, targeted treatments, and improved healthcare outcomes for millions.
- Challenges include funding limitations, lack of awareness, and a shortage of trained professionals in genetic medicine.
- Expanding genomics research in Africa could lead to more personalized medicine, cost-effective healthcare solutions, and better management of both rare and common diseases.
SU Contributes to Groundbreaking Global Study on Ultra-Rare Diseases
Stellenbosch University (SU) is spearheading a genomic revolution that promises to transform healthcare across the African continent. The university’s Rare Disease Genomics research group, led by Professor Shahida Moosa, recently participated in the landmark TRANSLATE NAMSE study, published in Nature Genetics. This international collaboration, involving researchers from 16 German university hospitals and SU, successfully diagnosed 499 patients and identified 34 new genetic diseases, potentially revolutionizing genome diagnostics for rare disease patients globally.
Professor Moosa, head of Medical Genetics at Tygerberg Hospital and SU’s Faculty of Medicine and Health Sciences, was the sole non-German researcher in this multi-centre study. “What is really impressive is the discovery of the 34 novel disease-causing genes,” Moosa remarked, highlighting the study’s significance. This research not only advances our understanding of rare diseases but also demonstrates the critical role that African institutions can play in global genomic research.
The study, which began in 2017, aimed to enhance patient care through modern diagnostic concepts. Employing exome sequencing and GestaltMatcher, an artificial intelligence (AI) tool for analysing facial features of individuals with suspected rare genetic conditions, the study examined 1577 patients, including 1309 children. Of the participants, 499 received molecular genetic diagnoses, with 370 distinct molecular genetic causes identified. The majority of these were ultra-rare disorders.
This breakthrough research positions SU at the forefront of genetic medicine in Africa, offering hope to thousands of patients with undiagnosed rare conditions. It also underscores the importance of including African genetic data in global research efforts, as the continent’s genetic diversity could hold keys to understanding and treating a wide range of diseases.
Science Meets Hope At The Magic Lab
At SU’s Biomedical Research Institute, affectionately nicknamed ‘The Magic Lab’, researchers are working tirelessly to unlock the secrets hidden within human DNA. The Rare Disease Genomics research group employs cutting-edge technologies, including whole exome sequencing (WES) and whole genome sequencing (WGS), to identify genetic variations that may be responsible for rare and undiagnosed conditions.
One of the group’s key initiatives is the Undiagnosed Disease Programme (UDP), which aims to provide correct diagnoses to patients with rare diseases. This program has already made a significant impact, helping hundreds of individuals who have lived with undiagnosed conditions for years. The UDP is part of the Rare Disease Genomics in South Africa (RDGSA) research group, which aims to provide correct diagnoses to patients with rare diseases.
The lab’s work extends beyond diagnosis. Researchers are also developing tools to measure pressure inside the brain, oxygen levels, brain chemistry, and inflammatory pathways. These advancements represent significant opportunities to make a difference in patient care and treatment outcomes. Professor Moosa explains, “You need a combination of tools, clinical expertise, and a critical mass of patients.”
Furthermore, the lab has established Africa’s first neuroscience biobank, collecting brain tissue, pathology tissue, brain interstitial fluid, and ventricular cerebrospinal fluid. This resource creates unprecedented opportunities for researchers to study brain conditions prevalent in African populations, potentially leading to breakthroughs in neuroscience and genetic medicine.
How Genomics Changes Lives in The Western Cape
The story of four-year-old Anothando Kabingesi exemplifies the life-changing potential of this research. Anothando, who suffers from Joubert syndrome, a rare disorder affecting brain development, received a definitive diagnosis through genetic testing at Tygerberg Hospital. This diagnosis not only provided answers for her family but also opened doors for more targeted interventions and support.
Before the diagnosis, Anothando’s mother, Nonhlanhla Kabingesi, struggled with uncertainty and self-blame. “I used to be crying alone, but I knew I was going to put this name – Joubert syndrome – into my phone and I was going to find out more for my Ano,” she says. The diagnosis brought not only understanding but also hope and direction for Anothando’s care.
This case illustrates the profound impact that genetic diagnosis can have on patients and their families. It provides clarity, directs treatment options, and often brings a sense of relief and community. As Professor Moosa notes, “Being able to name a rare condition is a huge step forward for the families of patients. Next, matching the known characteristics of a condition with the patient’s individual situation means a course of treatment, intervention and support can start to take shape.”
The impact of genetic testing extends beyond medical treatment. In Anothando’s case, it led to improved living conditions for the family. After seeing photos of Anothando’s injuries from living in unsuitable housing, Professor Moosa was able to advocate for the family, resulting in their relocation to safer accommodation. This holistic approach to patient care demonstrates the far-reaching implications of genetic medicine in improving overall quality of life.
Untapped Potential: Africa's Genetic Diversity
Africa, as the cradle of humankind, hosts the greatest genetic diversity on Earth. This diversity presents a unique opportunity for genomic research, offering insights that could benefit not just Africans but people worldwide. However, as Professor Moosa points out, this potential remains largely untapped due to underrepresentation in global genetic databases.
“Most genetic research and testing is not being done in Africa,” Moosa explains. “This means that when I read the exome of one child or the genome of another and I find some ‘spelling error’ [a variant in the ways the genes have been sequenced], I often don’t know how to interpret it. Is it something that is present in healthy African people or is it something to worry about? We don’t know because the variation is simply not represented in the limited databases that we have.”
This gap in knowledge not only hampers diagnosis and treatment for African patients but also represents a missed opportunity for global medical advancement. By expanding genomic research in Africa, scientists could uncover new genetic variations associated with both rare and common diseases, potentially leading to breakthrough treatments and a deeper understanding of human genetics as a whole.
The inclusion of African genetic data in global research efforts is crucial for developing truly representative genomic databases. This would enhance the accuracy of genetic diagnoses and treatments not only for African populations but for people of African descent worldwide. It could also lead to the discovery of genetic factors that confer resistance to certain diseases, potentially informing new therapeutic approaches.
Funding and Expertise Gaps in Genetic Medicine
Despite its immense potential, genomics research in Africa faces significant challenges. Funding limitations often restrict the number of patients who can undergo genetic testing. Professor Moosa notes, “We have the technology and the machines that do the sequencing right here in the state-of-the-art Biomedical Research Institute at SU, and we don’t have a shortage of people coming forward, wanting to have testing done. But I only have enough money to do tests on maybe half of the people that I would like to test at the moment.”
Another major hurdle is the shortage of trained professionals in genetic medicine. Currently, there are only about 12 medical geneticists in South Africa, a number woefully inadequate to meet the needs of the population. This shortage extends to genetic counselors, laboratory geneticists, and bioinformaticians, all crucial for the interpretation and application of genetic data.
The lack of awareness about genetic testing and its benefits among healthcare providers and the general public also poses a challenge. Many patients who could benefit from genetic testing may not be referred for these services due to a lack of understanding about their availability or importance.
However, these challenges also present opportunities. Investing in genomics research and education could create new career paths for African scientists and healthcare professionals. It could also position African institutions as global leaders in this rapidly evolving field. Initiatives to train more professionals in genetic medicine and to incorporate genetic testing into mainstream healthcare could significantly boost the continent’s capacity for genomic research and its application in clinical settings.
Genomics Research Opens Door To Personalized Medicine for Africa
The potential impact of expanded genomics research in Africa extends far beyond rare disease diagnosis. As genetic testing becomes more accessible and mainstream, it could revolutionize healthcare delivery across the continent. Personalized medicine, tailored to an individual’s genetic profile, could become a reality for millions of Africans.
This approach could lead to more effective treatments, reduced side effects, and better health outcomes overall. It could also help in predicting and preventing diseases before they manifest, potentially saving countless lives and reducing healthcare costs in the long run. For example, identifying genetic predispositions to certain diseases could allow for early interventions and lifestyle modifications to prevent or delay onset.
Moreover, genomics research could play a crucial role in addressing some of Africa’s most pressing health challenges, including infectious diseases, non-communicable diseases, and maternal and child health. By understanding the genetic factors that influence disease susceptibility and treatment response, researchers could develop more effective interventions tailored to African populations.
The application of genomics in public health strategies could also lead to more targeted and cost-effective healthcare initiatives. For instance, understanding the genetic basis of drug responses could help in designing more effective vaccination programs or in choosing the most appropriate treatments for various conditions.
Shaping Africa's Genomic Future
As Africa stands on the brink of a genomic revolution, the need for investment, collaboration, and education in this field has never been more urgent. Expanding genomics research in Africa is not just about scientific advancement; it’s about improving lives, reducing healthcare disparities, and unleashing the full potential of the continent’s genetic diversity for the benefit of all humanity.
Professor Moosa’s vision for the future is clear: “There are many novel disease genes still to be discovered in Africa, and it is only through active teamwork demonstrated by this project that we will be able to move this kind of discovery forward on the continent.”
The journey towards realizing this vision will require concerted efforts from governments, academic institutions, healthcare providers, and international partners. By investing in genomics research, training more professionals in genetic medicine, and raising awareness about the importance of genetic testing, Africa can take its rightful place at the forefront of global genomic research and personalized healthcare.
As the world moves towards an era of precision medicine, Africa has the opportunity to not only catch up but to lead the way. The continent’s unique genetic landscape, combined with the dedication of researchers like Professor Moosa and her team, could unlock discoveries that transform healthcare not just in Africa, but around the world.
Frequently Asked Questions (FAQ)
Genomics research involves studying an organism's complete set of DNA. It's crucial for Africa because it can lead to more accurate disease diagnoses, personalized treatments, and a better understanding of the continent's unique genetic diversity.
Genomics research can lead to more precise diagnoses, targeted treatments, prediction and prevention of diseases, and the development of personalized medicine tailored to African populations.
Africa hosts the greatest genetic diversity on Earth, offering unique insights that could benefit global understanding of human genetics and disease mechanisms.
Key challenges include funding limitations, lack of trained professionals in genetic medicine, underrepresentation in global genetic databases, and limited awareness about genetic testing.
Countries can invest in research infrastructure, train more professionals in genetic medicine, incorporate genetic testing into mainstream healthcare, and foster international collaborations in genomics research.
