Affecting around 2 % of the population, autoimmune rheumatic diseases can have severe symptoms, including painful and swollen joints, fever, rashes, fatigue and sensitivity to the sun, with patients needing regular check-ups. Diagnosis can take a number of years from the onset of symptoms – too long to prevent negative outcomes. Moreover, wide variations exist between patients in terms of severity, prognosis and response to treatment, which renders therapy a trial-and-error process.
Most patients are given steroids, but these are associated with numerous side effects such as increased susceptibility to infections, osteoporosis, rapid weight gain and cardiovascular disease. Although promising treatments are being developed, separate disease classification means that treatments for one disease cannot be used to treat others which may have a similar molecular basis.
Researchers in the EU and industry-funded PRECISESADS project are gathering data on the molecular causes of various autoimmune rheumatic diseases and different patients' clinical symptoms in order to facilitate the delivery of precision medicine based on earlier and more accurate diagnosis.
Prescribing effective treatment soon after diagnosis and avoiding costly, ineffective and even counterproductive methods has huge benefits – first and foremost for patients. Autoimmune rheumatic diseases, if allowed to progress, typically cause irreversible damage to joints or major organs.
'Blood samples from over 3 000 patients from across Europe with different autoimmune diseases have undergone in-depth analyses, unprecedented in the field of rheumatology research,' explains project coordinator John Ioannou of UCB Biopharma in Belgium. 'Data on genome, transcriptome, proteome, methylome and other biological parameters have been analysed with the identification of novel clusters of molecular signatures, which could form the basis for a brand new classification of these diseases and pave the way towards more tailored therapy.'
Personalized treatment
By analysing patients' data using cutting-edge technologies, PRECISESADS researchers are defining groups of people in whom similar molecular interactions are taking place. The project will then identify characteristics of specific groups of diseases to support clinical trials and work out which patients will respond to which drugs.
The datasets generated by PRECISESADS will enable Europe's pharmaceutical industry to share findings related to autoimmune rheumatic diseases on an unprecedented scale. They will thus provide a basis for both commercial and academic institutions to examine and validate numerous hypotheses on disease classification and biomarkers.
This will make it possible to overcome the problem of inappropriate classification and identify targets such as molecules or molecular interactions most likely to be amenable to treatment.
'These diseases tend to clinically overlap and this makes it difficult for the pharmaceutical industry to find drugs that really benefit patients,' says Marta Alarcón-Riquelme head of medical genomics at the University of Granada Centre for Genomics and Oncological Research, the project's managing entity lead. 'We will reclassify patients into new groups that might respond much better to certain pharmaceutical drugs available on the market.'
A huge step
'PRECISESADS highlights the enormous potential that can be unlocked through a functional collaboration between big pharma, SMEs and academia,' says John Ioannou. 'It's so important to get in early with the best treatment for all patients. We remain some way off but this study provides a huge step towards achieving this ambitious aim.'
Two conferences featuring international translational genomic research experts have also contributed by providing training opportunities for consortium members and trainees and so nurturing the next generation of researchers.
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