Abstract
 

Stepping stones in rare disease pathways

Rare diseases are defined by their prevalence, which is less than 2 per 1000 in the EU. However, there are currently about 6200 rare diseases known and their pooled abundance in the population is estimated to be about 5% [1]. In short, they are rare but many. Research of rare genetic diseases struggles with different specific problems of availability of patients, samples, and data for development and improvement of diagnosis and treatment. Lack of data availability and interoperability restrict the possibilities for data re-use. Fragmentation of data and information in different un-connected resources as well as limited awareness of researchers about the available resources hamper progress additionally.
In this presentation, I will show several recent works on how to de-fragmentise rare disease information - with sometimes surprising results - and show how to get the most out of rare (multi) omics data with specially adapted workflows. Within the European Joint Programme on Rare Diseases (EJP RD), the largest research program in this field with a budget of 101 Mio EUR and 93 beneficiaries, we are integrating several of these rare disease specific and non-specific resources to create a virtual platform where researchers and clinicians can find information [2].
 

[1] Nguengang Wakap S, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, Murphy D, Le Cam Y, Rath A. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020 Feb;28(2):165-173. doi: 10.1038/s41431-019-0508-0. Epub 2019 Sep 16. PMID: 31527858; PMCID: PMC6974615.
[2] http://vp.ejprarediseases.org/