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.
HealthLumen has recently conducted a genetic database analysis study in partnership with Rallybio, a clinical-stage biotechnology company, focused on understanding the proportions of women at higher risk for Foetal and Neonatal Alloimmune Thrombocytopenia (FNAIT) across a broad population of diverse ancestries. The results demonstrated that the proportion of women at higher risk for FNAIT was […]
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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