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Rare diseases may affect individual patients in relatively small numbers, but collectively they represent a significant global health burden.

For millions of families, however, the challenges of diagnosis, treatment, research funding and access to specialised care remain largely overlooked.
In Nigeria, the situation is particularly challenging. The country’s healthcare priorities have understandably focused heavily on high-burden conditions such as malaria, tuberculosis and HIV/AIDS, as well as recurring infectious disease outbreaks including Lassa fever. However, this focus has left many rare genetic and metabolic disorders with limited policy attention, research investment and specialised services.

A global assessment by Rare Diseases International (RDI) has highlighted significant constraints surrounding rare disease information, healthcare resources and specialist services in Nigeria. For affected families, the difficulties often extend beyond the absence of funding.

Limited familiarity with rare conditions among healthcare professionals, inadequate diagnostic facilities, the high cost of specialised testing and the concentration of specialist services in a small number of tertiary institutions can make diagnosis and treatment difficult. Emotional and psychological support for affected families is also often limited.

As a result, some families turn to online fundraising and community support to finance essential medical care.

The term “rare disease” can itself be misleading. More than 300 million people worldwide are estimated to be living with one of more than 7,000 recognised rare diseases.

Collectively, these conditions therefore affect a substantial global population despite each individual disorder affecting relatively few people.

Research published by Pedro Andreu and colleagues in The Burden of Rare Diseases: An Economic Evaluation estimated the global societal burden of rare diseases at between $7.2 trillion and $8.6 trillion annually. The analysis also reported that the average cost of caring for a person living with a rare disease can be substantially higher than the cost associated with common chronic conditions such as diabetes and arthritis.

For Nigeria, the financial burden is particularly significant because of the country’s heavy reliance on out-of-pocket healthcare payments.
While Nigeria does not currently have a comprehensive centralised registry capable of calculating the total national economic burden of all rare diseases, individual studies illustrate the financial pressure faced by patients and families.
For example, research involving sickle cell disease patients at the University of Nigeria Teaching Hospital found a median monthly cost of approximately ₦76,711 per patient, with direct outpatient expenses accounting for nearly 88 per cent of the reported expenditure.

Although sickle cell disease is not typically classified as a rare disease globally, the example illustrates the financial pressure that genetic disorders can place on Nigerian households, particularly where health insurance and other financial protection mechanisms are limited.

Against this backdrop, Nigerian scientists working on rare genetic and metabolic diseases are seeking new approaches to diagnosis, treatment and understanding the underlying biology of these conditions.

One of them is Dr Anu Balogun, a Nigerian scientist and postdoctoral fellow at UPMC Children’s Hospital of Pittsburgh, whose research focuses on liver pathology and rare genetic diseases.

Her work has received recognition from professional organisations including the American Porphyria Foundation and the Foundation for Prader-Willi Research.

Balogun’s research includes investigations into previously unexplored muscle and liver abnormalities in a preclinical model of Prader-Willi syndrome, as well as efforts to develop small-molecule therapies for inborn errors of metabolism.

Earlier in her career, she also worked on therapeutic approaches for porphyria, a group of rare disorders associated with abnormalities in heme production.

Depending on the type, porphyria can cause serious liver complications, neurological symptoms and extreme sensitivity to light.

To explain the complex biological processes involved in porphyria, Balogun uses the analogy of a traffic jam.

“The enzymes are traffic lights, and the porphyrins are the cars. When one light breaks because of a genetic mutation, traffic begins to pile up until the entire pathway becomes completely blocked,” she explained.

Her research explored the use of a small-molecule inhibitor to reduce the production of toxic porphyrins while also activating the cell’s natural recycling mechanisms. The approach was designed to help remove toxic cellular accumulation and reduce associated liver injury.
For Balogun, however, the future of rare disease research extends beyond developing individual treatments.

She believes genetic diversity is central to understanding how rare diseases develop and how patients respond to potential therapies. In particular, she sees the genetic diversity of Nigerian populations as an important research resource that could contribute to advances in precision medicine.

Greater research into African populations could potentially help scientists identify genetic variations, disease mechanisms and treatment responses that are underrepresented in existing datasets.
Her perspective also highlights a broader issue in global medical research: populations that have historically been underrepresented in genetic studies may hold valuable information for understanding human disease.

The growing work of scientists such as Balogun demonstrates why rare diseases require attention beyond their individual patient numbers. Better awareness, expanded diagnostic capacity, stronger research infrastructure, improved specialist services and greater representation of African populations in genetic research could all contribute to improving outcomes for people living with these conditions.

Rare diseases may be individually uncommon, but collectively they affect millions of people worldwide.

For families facing the uncertainty of an unexplained genetic or metabolic condition, greater recognition is not simply about statistics—it can determine whether a diagnosis is made, whether appropriate treatment is available and whether patients have access to the support they need.