Molecular reclassification to find clinically useful biomarkers for systemic autoimmune diseases
PRECISESADS project logo


Start Date
End Date
IMI1 - Call 8
Grant agreement number

Type of Action: 
RIA (Research and Innovation Action)

IMI Funding
9 999 323
EFPIA in kind
9 892 425
3 206 544
Total Cost
23 098 292


  Inflammatory autoimmune diseases such as rheumatoid arthritis and lupus affect 1-3% of the population, and while treatments exist, these are costly and have a number of serious side effects. There is growing evidence that many of these conditions may be incorrectly classified. The PRECISESADS project will study 2 500 people with various autoimmune diseases, gathering data on the molecular causes of their disease as well as their clinical symptoms. Using this information, they will pave the way for a new classification of these diseases, something that will allow doctors to offer patients more personalised treatments at an earlier stage of their disease.

Chronic inflammatory autoimmune disorders like systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) are found in 1-3% of the general population. They are particularly prevalent in women, with SLE affecting nine times more women than men. Symptoms of these diseases can be severe, and patients need regular check-ups. For example, symptoms of lupus include painful, swollen joints, fever, rashes, fatigue, and sensitivity to the sun. There are few treatments available for these diseases; most receive steroids, which are associated with serious side effects including an increased propensity to infections, osteoporosis, and cardiovascular disease.

In addition, these diseases are difficult to diagnose early enough in the disease process to prevent severe or even fatal outcomes. In some cases, it can take – six to eight years from the onset of symptoms to arrive at a diagnosis. This can also have a significant impact on the psychological well-being of the patient.

New and promising biological treatments are being developed for SLE, but it is not always clear which lupus patients will benefit from which treatment, plus separate disease classification means that they cannot be used to treat other autoimmune diseases which researchers believe share a similar molecular basis. In fact, the pharmaceutical companies face major problems in trying to identify tests to determine the usefulness of drugs in clinical trials. 

A new classification of inflammatory diseases

By establishing a Europe-wide, large-scale team, PRECISESADS will provide new data to offer a more appropriate classification of these patients. The project will analyse in great detail blood and urine samples of 2 500 people with a range of systemic autoimmune diseases, as well as patients with suspected autoimmune disease who don’t have a diagnosis because they do not fulfil current clinical criteria for any of the systemic autoimmune diseases. Through the analysis of these patients’ data, the project hopes to be able to define clusters of individuals who share similar molecular pathways for their disease and so could be treated in a targeted and personalised way. By evaluating the molecular and clinical data using the latest technology, the project will deliver new biomarkers for use in more targeted clinical trials. Clinicians can then tailor therapies according to the specific molecular pathways found in individual cases. In short, treatments will become more personalised.

Towards targeted treatments

A personalised approach to the treatment of autoimmune diseases would allow patients to receive an earlier and more accurate diagnosis. Since the new data will reveal the molecular mechanisms specific different groups of diseases, a tailored approach to clinical therapy can be identified and the precise molecular pathway can then be targeted. What’s more, earlier detection and more effective treatments will mean that the damaging effects of a late diagnosis can be avoided, and the patient’s disease progression can be better controlled. 

Sharing data to move forward

PRECISESADS brings together industry experience with academic and clinical expertise in the fields of genetics, metabolomics, mass spectrometry, rheumatology, and autoimmunology. The project will provide an advantage for the European pharmaceutical industry through the unique possibility of sharing new and existing data and findings on an unprecedented scale for these diseases. The expertise of the pharmaceutical industry is essential, as they have important knowledge of prior failures in this disease area and understand the urgent need to overcome the problem of the inappropriate classification of patients.

By pooling existing data and using cutting-edge technologies, the project will help to pave the way for more effective and earlier treatment of these debilitating and dangerous autoimmune diseases. The research being undertaken has always been seen as necessary but sufficient funding and a collaborative model has only now become possible through IMI. This is a unique research project will directly benefit from advances in technology and will ultimately deliver results at the patient’s bedside. 

Achievements & News

Identification of patient subgroups could pave way for personalised Sjögren’s syndrome treatments
September 2021

There is currently no treatment for primary Sjögren’s syndrome (pSS), an autoimmune disease that can affect a range of organs and tissues. New findings from IMI’s PRECISESADS project could help to change that.###

In recent years, scientists have run clinical trials of a number of treatments for pSS, but none of these proved successful, and to date there is no approved treatment for pSS. One reason for the clinical trial failures could be the diversity of pSS patients; some treatments may work for certain sub-groups of patients – the challenge is to identify these subgroups and match them up with appropriate treatments.

Now, a new paper in Nature Communications suggests that there could be four sub-groups of pSS patients. The team arrived at this conclusion after drawing up detailed molecular profiles from blood samples from over 300 pSS patients and comparing these with profiles from 330 healthy volunteers. The team also offer suggestions as to which kinds of treatments could work best for the different subgroups, effectively paving the way for more personalised treatments for pSS.

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Proposed ‘clustering’ of patients offers hope for better understanding of autoimmune diseases
June 2020

There is evidence that many autoimmune conditions (such as rheumatoid arthritis, lupus, and Sjögren's syndrome) may share molecular mechanisms. IMI’s PRECISESADS project carried out painstaking analysis of molecular and clinical data and were able to reclassify around 2 000 individuals affected by systemic autoimmune diseases (SADs) into four different clusters of molecular groupings.###

‘We were able to show that these different diseases can be joined together into groups,’ said project coordinator Marta E. Alarcón-Riquelme of the Centre for Genomics and Oncological Research in Granada, Spain. ‘There were four different groups of patients, formed by all the patients with the different autoimmune diseases. This was new.’ The four groups are inflammatory, undefined, lymphoid group and an interferon group. The interferon group was already known for lupus, and it was known that some patients with rheumatoid arthritis or scleroderma could also have the interferon signature. To go further and build on these new insights, more research is needed. ‘In another study we would need to look into whether by classifying the patients into in this way, we could actually find which treatment would be best for which patient,’ said Dr Alarcón-Riquelme.

By going beyond classical clinical signs and symptoms and grouping people by underlying drivers, the work of the team will help ensure better diagnosis and treatment for people with SADs in the future.

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Fast, effective treatment for autoimmune rheumatic diseases
December 2018

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.

Researchers in IMI’s 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.  ‘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.’

PRECISESADS hits 1000 mark on patient recruitment
December 2015

IMI project PRECISESADS has now recruited over 1 000 people into its pan-European clinical study on systemic autoimmune diseases such as rheumatoid arthritis and lupus. The milestone means that the project is well on track to recruit a total of 2 500 people from 9 countries into the study.### In the project, patients with the diseases under study as well as healthy people are giving blood and urine samples which are analysed in detail. ‘This will allow us to gain a full molecular profile of the patients and (hopefully) allow us to cluster the patients into groups based on their molecular profile instead of their clinical symptoms,’ explains project coordinator Marta Alarcón Riquelme of GENYO in Spain. ‘This would then allow clinicians to tailor the therapies to the specific pathways to be targeted in a sort of personalised medicine.’ The project hopes to recruit all patients needed for the study by the middle of 2017.

IMI projects working on a new way of defining diseases
February 2015

The work of IMI’s PRECISESADS and AETIONOMY projects on disease taxonomy is spotlighted in a new Nature Reviews Discovery comment piece.### Currently, most diseases are still defined largely on the basis of their symptoms, yet while two patients may share the same diagnosis, the underlying causes of their symptoms may be very different. This means that a treatment that works in one patient may prove ineffective in another. The AETIONOMY and PRECISESADS projects are pioneering a new approach to the classification of disease; for AETIONOMY, in the field of Alzheimer’s and Parkinson’s diseases, and for PRECISESADS, in the field of systemic autoimmune diseases (such as rheumatoid arthritis and lupus). Although the projects are tackling the problem in different ways, their overall goal is the same: to pave the way towards a new taxonomy of disease that is based on the underlying causes of disease. In the long term, this will help to diagnose patients more accurately and provide them with a treatment that works for them.

Join PRECISESADS for a conference on the genomics of complex diseases
IMI’s PRECISESADS will hold a conference on the genomics of conference diseases in Granada, Spain on 10-11 March 2016. PRECISESADS is working on a new classification of autoimmune diseases such as rheumatoid arthritis and lupus, and the study will pave the way for more personalised treatments. ### The conference will provide an overview of the genetic, epigenetic, regulatory and functional aspects of genomics studies as well as the new challenges posed by next generation sequencing and bioinformatics in the understanding of complex diseases, focused on systemic autoimmune diseases. The scientific program will include updates on genetic susceptibility of lupus and other autoimmune diseases, studies around immune cells and autoimmune disease and drug repositioning and other interesting topics. In addition, PhD students and post-docs are invited to submit abstracts for the event. Deadline for registration: 31 December 2015. 

Participants Show participants on map

EFPIA companies
  • Bayer Aktiengesellschaft, Leverkusen, Germany
  • Eli Lilly And Company LTD, Basingstoke, United Kingdom
  • Institut De Recherches Internationales Servier Iris, Suresnes, France
  • Sanofi-Aventis Recherche & Developpement, Chilly Mazarin, France
  • UCB Biopharma, Brussels, Belgium
Universities, research organisations, public bodies, non-profit groups
  • Agencia Estatal Consejo Superior De Investigaciones Cientificas, Madrid, Spain
  • Centro Hospitalar Universitario Do Porto Epe, Porto, Portugal
  • Charite - Universitaetsmedizin Berlin, Berlin, Germany
  • Consorci Institut D'Investigacions Biomediques August Pi I Sunyer, Barcelona, Spain
  • Fondazione Irccs Ca' Granda - Ospedale Maggiore Policlinico, Milan, Italy
  • Fundacio Institut D'Investigacio Biomedica De Bellvitge, Hospitalet De Llobregat, Spain
  • Fundacion Publica Andaluza Progreso Y Salud, Seville , Spain
  • Karolinska Institutet, Stockholm, Sweden
  • Katholieke Universiteit Leuven, Leuven, Belgium
  • Klinikum Der Universitaet Zu Koeln, Cologne, Germany
  • Kypriako Idryma Erevnon Gia Ti Myiki Distrofia, Nicosia, Cyprus
  • Medizinische Hochschule Hannover, Hannover, Germany
  • Medizinische Universitaet Wien, Vienna, Austria
  • Servicio Andaluz De Salud, Sevilla, Spain
  • Servicio Cántabro de Salud, Santander, Spain
  • Szegedi Tudomanyegyetem, Szeged, Hungary
  • Universidad De Granada, Granada, Spain
  • Universita Degli Studi Di Milano, Milano, Italy
  • Universite Catholique De Louvain, Louvain-La-Neuve, Belgium
  • Universite De Bretagne Occidentale, Brest, France
  • Universite De Geneve, Genève 4, Switzerland
Small and medium-sized enterprises (SMEs)
  • Atrys Health, SA, Madrid, Spain
  • Quartz Bio S.A., Plan-les-Ouates, Switzerland
Third parties
  • Centre Hospitalier Regional Et Universitaire De Brest, Brest, France
Project coordinator
John Ioannou
UCB Biopharma SPRL
United Kingdom
Managing entity
Marta Alarcon Riquelme
Fundacion Publica Andaluza Progreso y Salud