Specialists in quantifying the current and future burden of non-communicable and rare genetic diseases.
Our data-driven epidemiology generates evidence to support strategic planning and portfolio management at each stage of the drug development process, helping to bring new therapies to patients faster.
From molecule to market, our solutions can help.
Deep expertise in disease epidemiology combined with entrepreneurial vision. Our work has been widely published and peer-reviewed by world-leading experts.
Why Us?We’ve spent over a decade developing our methodology to help you ask the right questions and make the best decisions.
SolutionsWe’ve answered all kinds of questions for many different organisations, covering over 25 NCDs and rare genetic diseases in over 80 countries.
Track RecordOur experienced and multidisciplinary team brings together epidemiologists, geneticists, mathematicians, data scientists, researchers, and software engineers.
About Us
One of the main challenges faced by all companies conducting strategic planning for rare diseases is obtaining accurate data on the size of these often complex patient populations. The challenge of accurately estimating the prevalence of rare diseases is illustrated in the literature, where prevalence figures often span strikingly wide ranges – sometimes varying by orders of magnitude between studies. This level of uncertainty affects every step of the molecule-to-market planning cycle. The growing availability of large-scale genetic databases offers a solution to close the gap on wide ranging rare disease prevalence estimates, and can complement the data derived from other sources including the literature and information gathered from clinical practice.
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Chronic kidney disease (CKD) is a major global health issue – affecting an estimated 1 in 10 people – yet it is frequently overlooked on health agendas worldwide. In its early stages, CKD is often asymptomatic, and many individuals are unaware that they have CKD until the disease has progressed to later stages, where it becomes harder and more costly to treat – with patients facing the prospect of dialysis or kidney transplant. This makes early CKD detection critical to improving patient outcomes and reducing the growing health and economic burden of CKD worldwide. Recognising this, the World Kidney Day campaign this year is centred around the theme: “Detect early, protect kidney health.”
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Rare Disease Day presents a time to reflect on the progress made in understanding and addressing the unique challenges that rare diseases bring – and the hurdles that remain. Over the past year, several significant developments have shaped the rare disease landscape, from new regulatory policies and technological advancements to major advocacy efforts.
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Fabry disease is a rare genetic X-linked disease caused by pathogenic genetic variants in the GLA gene. As with other rare genetic conditions, of which there are thought to be over 7000, accurately determining the prevalence of Fabry disease is challenging. Using HealthLumen’s genetic database mining methodology, our recent study suggests that Fabry disease prevalence in the US may considerably exceed previous estimates.
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