By: Professor Felicia Chung Fei Lei, Professor of Sir Jeffrey Cheah Sunway Medical School and the Faculty of Medical and Life Sciences, Sunway University
As the world marks World Health Day, attention often turns to the most visible health challenges. Yet rare diseases affect millions worldwide and remain underdiagnosed, underfunded, and poorly understood. Addressing this gap requires not only scientific innovation, but also a shift in how we prioritise research and care.
A study published in Nature Communications takes a closer look at a little-known cancer known as small intestinal neuroendocrine tumours, or siNETs. These tumours arise in hormone-regulating cells in the small intestine and, while often described as slow growing, can be unpredictable, with some patients experiencing serious complications. Affecting only one to two people per 100,000 each year, siNETs have historically received limited research attention.
The study, involving researchers from Europe and Malaysia, conducted a comprehensive analysis of the tumours from multiple dimensions, examining DNA, gene expression, and epigenetics – the molecular “switches” that control how genes are turned on or off. What they found challenged long-held assumptions about the disease.
Rather than being one single type of cancer, siNETs appear to fall into at least four distinct groups. Each group behaves differently and may respond differently to treatment. Some are linked to how hormone-producing cells develop, while others are shaped by the immune system or the surrounding tumour environment. One group, in particular, was associated with poorer outcomes and resistance to treatment, helping explain why some patients do not respond as expected.
The researchers also tackled another long-standing question: why do some patients develop just one tumour, while others develop many? Their findings suggest that these are not simply different stages of the same disease, but may arise through entirely different biological processes.
For Felicia Chung, Head of the Department of Biomedical Sciences at Sunway University and one of the co-first authors of this study, said: “Rare cancers like siNETs are often overlooked, yet they can reveal important insights into how cancer develops and behaves. Our findings show that these tumours are far more diverse and has real clinical implications. By mapping these cancers, we can then compare them against other cancers that share similar biological features, opening up opportunities to apply treatment strategies across diseases and better tailor how we manage patients.”
With growing expertise in genomics and strong international collaborations, Malaysian researchers are driving work that is both locally relevant and globally impactful. It also underscores Sunway University’s focus as a mission driven, fifth generation university advancing translational and genomic research. This is reflected in its strengths in multi-omics analysis, cancer genomics, and bioinformatics, supported by strategic investments in infrastructure, talent, and partnerships with leading institutions such as the University of Cambridge and Harvard University, reinforcing a broader commitment to addressing healthcare challenges from common to rare, and simple to complex.
Ultimately, progress in rare disease research depends on collaboration between scientists, clinicians, and patients. No disease is too rare to matter. Because behind every diagnosis is a person, and every person deserves answers, attention, and hope.
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