The project MedBioinformatics aims to develop useful bioinformatics tools and applications, and autonomously usable for analysing the huge amount of data and knowledge generated in healthcare and biomedical research in order to facilitate translational research and precision medicine.
According to Ferran Sanz, Director of GRIB (IMIM-UPF) and coordinator of this project, "most potential users, i.e. translational researchers and health professionals, do not have adequate tools to efficiently exploit this large and heterogeneous amount of information. So far, efforts to develop bioinformatics methods and tools have not produced the expected impact in healthcare environments". Ferran Sanz added that this is primarily due to two reasons "on one hand, the lack of integrative strategies that effectively combine the diverse types of data that are available in different repositories around the world. On the other hand, there is a lack of involvement of end users during the process of creating applications to identify the information they really need and to present it in the most appropriate format. We must develop applications that integrate, analyse and show biomedical information in a way that is immediately understandable and useful to end users."
Expansions of amino acid tracts in proteins are famous for causing a number of neurodegenerative and developmental diseases. However, these regions are also an important motor for evolution, as recently shown in an article appeared in Molecular Biology and Evolution coauthored by the Evolutionary Genomics group of GRIB (IMIM-UPF) led by Mar Albà and the Gene Function group of CRG led by Susana de la Luna.
The complexity of vertebrates is related to two whole genome duplications occurred at the origin of the group. After these events, many developmental regulators were retained in multiple copies and later acquired different functions. The authors have shown that a large number of transcription factors gained new amino acid tandem repeats after the duplication. In experiments performed in families containing poly-alanine tracts, deletion of the repeat recapitulates the ancestral protein transcriptional activity, making the two copies alike again. The results support the idea that repeats played an important role in in the diversification of transcriptional networks during vertebrate evolution.
Article ref.: Núria Radó-Trilla, Krisztina Arató, Cinta Pegueroles, Alicia Raya, Susana de la Luna* and M.Mar Albà*. Key role of amino acid repeat expansions in the functional diversification of duplicated transcription factors. Molecular Biology and Evolution, April 29, 2015, Advance Access. *co-corresponding
The project iPIE: "Intelligence Led Assessment of Pharmaceuticals in the Environment", aims to develop a predictive framework that utilise existing information and in silico models to support more intelligent environmental testing of pharmaceuticals in development and to prioritise legacy pharmaceuticals for full environmental risk assessment and/or environmental (bio) monitoring. European project funded by IMI for the period 2015-2017.