A Plea for Prioritizing Rare Diseases in Africa
Variant Bio’s mission is to develop therapies for common diseases, with the goal of improving global health. Common diseases include things like autoimmune disease, neurodegenerative and neuromuscular disease, and kidney and liver disease, among others. In order to find cures for these common diseases, Variant is creating a genomic database to improve our understanding of human genetic diversity.
However, we often partner with researchers who have a different focus from our own but whose research interests also benefit from a genomics approach. In this post, we have asked our research partners Dr. Ilse du Preez and Dr. Elne Conradie from The Centre for Human Metabolomics (CHM) at North-West University (NWU) and Dr. Helen Malherbe from Rare Diseases South Africa (RDSA) to discuss some of their research team’s work on rare disease characterization in sub-Saharan Africa. To accomplish this worthy goal, CHM in collaboration with RDSA is creating the first-ever rare disease biobank and registry in Africa.
A disease is considered a “rare disease” if it affects less than one in 2000 people (for example: Fabry, Gaucher, Mucopolysaccharidosis, Congenital disorders of glycosylation, Galactosemia, Isovaleric Acidemia). Although individually rare, collectively, rare diseases are common, with more than 7,000 known and characterized to-date. In South Africa, this means that about one in every 15 people are affected by a rare disease, which is equivalent to one player in every rugby team! Moreover, about 4.1 million South Africans have been, or will be, diagnosed with a rare disease in their lifetime.
Sadly, though, rare diseases are currently not a priority in Africa because other pressing issues such as the provision of basic needs (e.g. nutrition) and competing health priorities such as communicable diseases, often overshadow the needs of rare disease patients. Additionally, there are other challenges to getting rare disease patients’ needs prioritized. Some of these are institutional, such as lack of financial and governmental support, the limited clinical expertise of physicians in Africa, and access to healthcare. Yet other challenges are individual, such as a lack of patient awareness of these diseases, patients lost to follow-up care, vast geographical distances from the necessary health service facilities, and a personal fear of exploitation and stigmatization.
Many high- income countries have a national newborn screening program to assist in the early diagnosis and treatment of specific rare diseases. For example, everyone in the United States born after the 1960s gets a heel prick test for about 10 to 30 rare diseases, such as cystic fibrosis and phenylketonuria (PKU). However, these services are largely unavailable in most developing countries, South Africa included. Although South Africa does not have a national newborn screening program, the CHM does offer newborn screening in an effort to help families get a diagnosis and treatment as soon as possible. However, this is currently only available to a small portion of the population on private medical aid and in specific scenarios. A simple heel prick after birth can change a child’s life forever and it is imperative that these services are made more widely available to state health care users.
A recent publication in Nature Genetics highlighted the fact that global action is required to raise awareness for rare diseases in Africa. The following figure represents some key issues that need to be addressed to improve rare disease diagnostics and care on the continent:
The task seems very daunting… Where to start? The CHM at North-West University in South Africa has recently developed a concept approach and joined forces with the national patient support group, Rare Diseases South Africa (RDSA), in an effort to prioritize rare diseases in South Africa and Africa. The concept is based on the following:
To achieve these goals, the CHM is in the process of launching the continent’s first exclusive rare disease biobank. Together with RDSA, the plan is to interlink rare disease registries across the country and Africa. This will help quantify the burden of rare diseases, provide decision-makers with the necessary evidence on this neglected group of diseases, and promote the development and implementation of national policies on rare disease screening, diagnosis, and treatment. From a research perspective, the CHM also hosts the National Metabolomics Platform of South Africa (NMP), and plans to launch large-scale research projects, specifically focused on the characterization of the metabolism variations in patients with rare metabolic disorders. Outputs from such studies could help to better understand the diseases and contribute directly or indirectly to the development of more effective diagnostic and treatment procedures.
To fully exploit the potential of the rare disease patient samples in the Biobank, the CHM is also actively recruiting research collaborations, both nationally and internationally. The latter is made possible through the NMP’s contract research services, which provide external academia and/or research entities relevant services, including patient sample recruitment, collection, storage, and analytical metabolomics analyses, all in a secured and ethically approved environment. Rare biobank samples are also available for external research who want to do more specific research in their own laboratories, in collaboration with the CHM.
The message is clear: there is a great need for action towards prioritizing rare diseases on the African continent. The needs of rare disease patients are often overlooked and overshadowed by other pressing issues such as the provision of basic needs and competing health priorities. For Africa to ensure good health and well-being for ALL citizens (United Nations Sustainability Development Program Goal 3), rare disease patients can no longer be left behind. It is therefore an imperative to rethink standard practices in setting up rare disease infrastructure and networks across Africa to overcome the outlined barriers to the diagnosis and care of this neglected healthcare need.
For further information, please contact: Dr Elne Conradie and Dr Ilse du Preez from North-West University’s Centre for Human Metabolomics, and Dr Helen Malherbe from Rare Diseases South Africa.
