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”?

Accurately determining the true prevalence of rare diseases is very challenging due to a combination of factors including incomplete clinical data (since carriers of the disease who are not yet symptomatic or diagnosed, will not be registered), and sparse penetrance data.

There is a growing consensus that this results in potentially significant underestimates of the true scale of rare diseases.

At HealthLumen we have been working with large genetic datasets such as gnomAD and TOPMed, developing tools to estimate prevalence by taking a granular ‘bottom up’ approach.

  • Large genetic databases enable the frequency of occurrence of a given allele to be quantified and, coupled with penetrance, this can give a more accurate estimate of the true burden of the disease by estimating both diagnosed and undiagnosed cases.
  • This improved accuracy could be transformational for industry investment plans in new therapies, raising awareness of rare diseases, shaping policy guidelines, and patient advocacy.

We are looking forward to sharing our work and discussing with colleagues at several upcoming events in the final quarter of this year, as follows:

Stay Connected

We invite you to connect with us on our social media channels and website to receive updates, and insights.

These upcoming conferences represent forums for collaboration, learning, and forging new connections with like-minded individuals. We look forward to seeing you there and exploring the important developments in this field.

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