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:
- Orphan Drugs and Rare Diseases Conference, 9th – 10th October at Ibis London Earls Court Hotel & ILEC Conference Centre
- This event aims to provide a valuable and broad platform to discuss recent advances in the development of therapies, critical issues, and strategies to enhance orphan drug development in near future.
- Our COO, Dr Laura Webber, is presenting on Day 1 on “The hidden population: quantifying the undiagnosed burden of rare diseases”
- 2023 NORD Breakthrough Summit, 15th – 17th October, Washington DC
- This event brings together over 900 rare disease advocates, experts, and stakeholders from around the world to tackle the most pressing issues facing the rare disease community, including the impact of the Inflation Reduction Act, gene editing, and equitable access to care.
- World Orphan Drug Congress, Barcelona, 30th October – 2nd November
- The World Orphan Drug Congress is an award-winning event with an exhibition that has grown to become the largest and most established orphan drugs and rare diseases meeting of its kind across the globe
- Laura is presenting at the Company Showcase on Day 1.
- The London Rare Disease Showcase, 27th November
- The London Rare Disease Showcase aims to shed light on the latest innovations and advancements occurring in the field of rare diseases, with special emphasis on the rare disease landscape in the UK’s capital.
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.