A rare day to commemorate people living with rare diseases

Of the 400 million people globally, about 4 million South Africans are living with a condition that affects a minority of people within the general population.

This figures comes after Thursday marks Rare Disease Day. Ironically, in 2024, it is celebrated on 29 February, the rarest day on the calendar.

PHOTO: RareDisease.org

Rare diseases in Africa are receiving a welcome boost for 2024, with the establishment of an Africa/Europe Cluster of Research Excellence called “Genomics for Health in Africa", a project that will provide medical genetic testing (used in the diagnosis of most rare diseases) to various African countries that have had little or no access to it until now.

“The project aspires to leverage the African genome and bring precision medicine to the multitude of undiagnosed people living with rare diseases in Africa," says geneticist, Prof Shahida Moosa, who heads the Rare Disease Genomics Research Group at Stellenbosch University.

The rare diseases and familial cancers arm of the Genomics for Health in Africa project will see a team of Stellenbosch University researchers led by Moosa, collaborate with research partners in Africa and Europe to not only bring medical genetic testing to a number of African countries, but will also build medical genetic and genomics capacity on the continent.

According to Dr. Moosa, this research conglomerate is made up of members of The African Research Universities Alliance and its European counterpart, The Guild, and brings together partners from across the rare diseases, cancer and infectious diseases fields – all which can benefit from increased access to genomics.

“Worldwide an estimated 400 million people are living with rare diseases, of which 100 million are in Africa. Unfortunately, access to genetic testing is not equitable. There are facilities in the United States and Europe where a baby will be diagnosed with a rare disease within hours of birth. In other parts of the world, including Africa, people live and suffer for decades before a diagnosis is made, if it's made at all," explains Moosa, who is also the head of Medical Genetics at Tygerberg Hospital and directs sub-Saharan Africa's only Undiagnosed Disease Programme (UDP).

 

Up to 80% of all rare diseases have a genetic basis and require genetic testing to make an accurate diagnosis.

“For the undiagnosed patients living with rare diseases in Africa, the first step is to give them access to genetic testing to get a diagnosis. Then we can start tailoring the treatment and identify the support they need locally in their hospitals, homes and communities," explains Moosa.

In South Africa, an estimated one in every 15 people are affected by rare diseases, which means just over 4 million South Africans are living with a condition that affects a minority of people within the general population. There are about 7 000 known rare diseases in South Africa, with children being the worst affected.

“The long-term project for us is to bring genomics into more mainstream public health, so it not only informs the treatment and management of rare diseases, but also things like cancer, infectious diseases and pharmacogenetics, where we do genetic testing to determine which drugs will be most effective in individual patients," says Moosa.

She explains that this type of precision medicine not only benefits patients, as treatment is often more effective and less invasive, it also benefits the health system through cost saving by avoiding unnecessary testing, treatment, and hospitalisation. Undiagnosed patients with rare diseases often spend years going from doctor to doctor and test after test, in search of a diagnosis, or relief of their symptoms. This puts of strain on the health system both in terms of money and human resources. Genetic testing (whole exome sequencing), which costs in the region of R10 000, can potentially circumvents hundreds of thousands of rands in unnecessary procedures.

“Testing itself is accessible and we are working on bringing the price down so that it also becomes affordable," says Moosa. “At the moment it is mostly done on a research basis, but if we can provide proof of concept, there will be adoption of the new technology at a price point that governments can invest in, because it does save costs.

“The motto of the Undiagnosed Disease Programme and the research group is 'Until every African with a rare disease is diagnosed'. The Genomics for Health in Africa projects set the stage to achieve just that!"

 

Done By: Mitchum George