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The role of precision epidemiology in R&D decision-making: Spotlight on rare genetic diseases
Rare genetic diseases are challenging to treat due to their complexity, the unique nature of each condition, and the – by definition – small numbers of patients affected by each one. Encouragingly for the rare disease community, the field is moving rapidly with a wide variety of innovative therapies being developed, including gene therapy involving […]
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Securing Europe’s competitiveness in R&D for people living with rare diseases: Key takeaways from Rare Diseases Forum 2024
Background Set against the backdrop of the Belgian Presidency of the Council of the EU, Rare Diseases Forum came to Brussels this year on April 16th, bringing together a wide range of stakeholders to discuss a European rare disease Action Plan that aims to help Europe secure competitiveness in R&D for rare disease therapies. Although […]
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World Kidney Day 2024: Kidney health for all
It is estimated that a staggering 1 in 10 people worldwide are living with kidney disease (1). Despite its high global prevalence and mortality, CKD has surprisingly often been overlooked on health agendas across the globe up until now. In particular, low and middle-income countries are disproportionately affected by CKD and kidney failure, with a […]
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How rare is rare? Quantifying the hidden population living with rare genetic diseases using genetic databases
Rare Disease Day is fast approaching, with a programme of activity being lined up, through international initiatives and country-specific programmes, in the UK for example to highlight challenges, raise awareness and generate change for the 300 million people worldwide living with one or more of the roughly 8,000 known rare diseases, as well as their […]
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Join us at upcoming conferences to discuss the latest findings in the epidemiology of rare diseases.
It’s a well-established truism that rare diseases, whilst rare at the individual disease level, are collectively quite common, with some 300 million people worldwide living with a rare disease. However, are rare diseases actually as rare at the individual disease level as current estimates suggest – what could be the extent of the “hidden population”? […]
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NEWS: Policy interventions could reduce chronic liver disease and liver cancer in Europe by up to 7% by 2030
Europe has the largest burden of diagnosed liver disease globally with almost 30 million people in the European Union alone estimated to be living with a chronic liver condition. Liver cirrhosis accounts for 1.8% of all deaths reported in Europe (170,000 deaths annually) with a 100% increase in cirrhosis deaths observed across the Eastern European […]
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NEWS: Innovate UK-funded study reveals cost of air pollution related disease to local populations
Sandwell Metropolitan Borough Council has announced the successful completion of a groundbreaking pilot study on reducing poor air quality through community measures. The pilot study was launched in November 2022 by a consortium led by Enjoy the Air in partnership with Sandwell Metropolitan Borough Council to examine the link between air pollution, behaviour and the […]
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Estimating the prevalence and future burden of rare genetic diseases: challenges and solutions
Genetic diseases are conditions caused by abnormalities in an individual’s DNA. They can be inherited from one or both parents, or can occur as a result of spontaneous genetic mutations. They may be caused by a mutation in a single gene (monogenic); by a chromosomal change where there are more or fewer copies than usual; […]
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Early intervention for preventing NCDs: generating evidence for the health and economic impact, using microsimulation modelling
Non-communicable diseases (NCDs), including heart disease, stroke, cancer, diabetes and chronic lung disease, are the leading causes of death worldwide. A recent report by FP Analytics sets out the scale of the problem and the health and economic burden of NCDs. These conditions share a common set of risk factors of which the main ones […]
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NEWS: HealthLumen to participate in air pollution project funded by UK Research and Innovation (UKRI)
HealthLumen is part of a consortium that has been a awarded a £50,000 Fast Start: Innovation grant to undertake a pilot project in Sandwell to reduce poor air quality through community measures. Air pollution is a major environmental cause of early death: it is also responsible for short- and long-term respiratory conditions such as asthma and lung […]