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Rare Disease Day 2025: Reflecting on a year of progress and the challenges that lie ahead
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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New genetic database analysis finds that Fabry disease may be three times more prevalent than current estimates suggest, uncovering a large underserved patient community
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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Demonstrating the value of cascade screening using microsimulation modelling: A pathway to faster diagnosis and improved patient outcomes for genetic diseases
Earlier diagnosis can make all the difference for individuals with genetic diseases. Delayed diagnosis hinders timely disease management and treatment access, meaning that progression to late-stage disease can occur more rapidly, likely leading to a significant increase in the health and economic burden of these conditions for patients, their families, and healthcare systems. Screening programs aim to identify individuals with genetic conditions earlier, with cascade screening in particular providing one way to help transform outcomes for patients.
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NEWS: New research identifying the number of women at risk of FNAIT to be presented at ASHG 2024
Rallybio, a clinical-stage biotechnology company, will be presenting the findings of a genetic database analysis study conducted in partnership with HealthLumen on Fetal and Neonatal Alloimmune Thrombocytopenia (FNAIT) risk across racially and ethnically diverse populations at the American Society of Human Genetics (ASHG) 2024 Annual Meeting. The conference will take place from November 5–9 2024 in Denver, Colorado.
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Supporting rare disease patient advocacy with epidemiological insights
Awareness of the vast impact of rare diseases, which affect approximately 300 million people globally (1), has significantly increased over the years, leading to increased funding and investment in rare disease research and therapy development. Although more than half of the novel drug approvals by the FDA’s Center for Drug Evaluation and Research last […]
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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 […]
