Jordi Quintana, head of the Drug Discovery Plaform at the Barcelona Science Park (PCB), has been appointed member of the Executive Board of the Data Mining and Repurposing Task Force of the International Rare Diseases Research Consortium (IRDiRC). Spain was the first European country to join the consortium promoted in 2011 by the European Commission and the National Institute of Health of the US aimed at fostering international cooperation in the research of more than 7000 rare diseases recorded to date.

The International Rare Diseases Research Consortium (IRDiRC) brings together leading experts from academia, the pharmaceutical industry, government agencies and patient organizations around the world with a very ambitious goal: to develop 200 new therapeutic strategies, diagnostic innovations and a global data base on rare diseases (RD) by year 2020. To carry out its activities, the Consortium has an Executive Committee and three Scientific Committees that coordinate the different Task Forces.

The Executive Committee of IRDiRC have selected data mining and repositioning of drugs as issues of immediate action, since research on RD is at a turning point, after the confluence of recent advances in genomics, proteomics and other technologies which, if properly exploited, could lead to important advances for this group of pathologies.

Jordi Quintana will be a key member of the Data Mining and Repurposing Task Force, the working group of the IRDiRC consortium that will focus its efforts on getting the most out of existing data and knowledge in order to identify new therapeutic targets and discover and develop innovative therapies through drug repositioning.

“In academia and in biotech and pharmaceutical companies, great breakthroughs have been achieved in genetic analysis and the discovery of the mechanisms of rare diseases but, until now,  these data and knowledge had rarely resulted in new therapeutic strategies. The mission of all of us who are part of this working group of the IRDiRC is to gain further insight into data mining, a process of identifying relevant information from large volumes of data with the aim to discover patterns and trends  by structuring such data into a comprehensible manner. This restructuring will enable to identify new therapeutic targets and hence develop effective treatments, using the repositioning of drugs”,  explains Dr. Quintana, who led the  Drugs4Rare (2012-2014)  project on drug repositioning  in rare diseases, funded by the IRDiRC through the Carlos III Health Institute.

Rare Diseases (RD), also called minority diseases, are a set of chronic diseases with a very low prevalence in the population but with a high degree of disability and high mortality: 50% of affected individuals die before age 30. Determining the prevalence to consider a disease as a rare disease does not respond to a universal value, but varies according to the different laws, countries and / or institutions. In Europe, a disease is considered as a minority disease when it affects less than one person for every two thousand inhabitants (<5 cases per 10,000 people); in the USA, when it affects less than 200,000 people (1 case per 1,200 people). Some Asian countries have selected a threshold of 1affected individual in 10,000 people. Despite their individual rarity, they are collectively very numerous. It is estimated that there are 7,000 identified rare diseases, 80% of which have a genetic component.