About

 

The Joint Program on Evolutionary Medical Genomics (EvoMG Program) is an initiative led by three institutions located at the PRBB in Barcelona, the CRG, UPF-MELIS and IBE. The goal of this program is to put together researchers from different areas to promote the application of evolutionary approaches to better understand disease and improve human health. 

 

1. What is Evolutionary Medical Genomics?

 

Evolutionary Medical Genomics (EvoMG) is at the crossroads of two emerging disciplines: Evolutionary Medicine and Medical Genomics. On the one hand, Evolutionary Medicine is the application of evolutionary theory and models to medical research and practice. On the other hand, we can define Medical Genomics as the application and integration of different types of genomic data (e.g. WGS, epigenomics, transcriptomics) to have a better understanding of the genetic and epigenetic bases of disease and drug response. Therefore, EvoMG research aims at exploiting the genomic diversity generated by evolution across scales -- species, populations, individuals and cells -- to (i) learn about human health and the mechanisms of disease, and (ii) help realize precision and personalized medicine.

 

2. A few practical examples of EvoMG research

 

  • Towards personalized medicine: by modeling genomic variation and diversity, not only within humans but also across the animal phylogeny, Mafalda Diaz and Jonathan Frazer, Group Leaders at CRG, developed an algorithm to predict clinically relevant variants from mutations found in patients, with a game-changing performance (Frazer et al, Nature 2021). With a similar goal, the labs of UPF-IBE researchers Tomas Marques-Bonet and Arcadi Navarro use genomic diversity within mammals and primates to pinpoint clinically relevant and phenotypically related mutations (Gao et al, Science 2023).
  • Covid-19: we have recently witnessed the full power of EvoMG with the Covid-19 pandemics. Massive sequencing and evolutionary analyses of SARS-CoV-2 genomes, basic technical and conceptual tools of EvoMG, have been the pillars of the predictions of SARS-CoV-2 spreading around the globe and of the evolution of new genomic variants. Arguably, EvoMG has saved millions of lives in this pandemic.
  • Cancer therapies: in addition to providing a better understanding of this disease, evolutionary models of cancer have gave rise to a novel line of therapies, called adaptive therapies, several of which are already in clinical trials substantially extending the lives of patients. 
  • Antibiotics resistance: the arms race between the evolution of antibiotic resistance by different bacteria species and the development of new antibiotics is another perfect example of the need of understanding evolutionary process to improve human health.
  • Novel Cas endonucleases: a recent study (Alonso-Lerma et al, Nat Microb 2023), in which UPF-MELIS researcher Marc Güell was involved, performed ancestral reconstructions to "resurrect" CRISPR-associated endonucleases from bacterial ancestors, providing Cas proteins with new biochemical properties.

 

3. A unique synergy for EvoMG in Barcelona

 

A very specific know-how is needed to exploit the vast information on human and non-human genomic variation and diversity for biomedical purposes. Various research institutes hosted at the Barcelona Biomedical Research Park (PRBB) have such large body of complementary expertise, and provide the core of EvoMG Program.

 

Evolutionary Medical Genomics

The potential for synergy emerges from the numerous groups working on one or both core topics of EvoMG (Evolution & Medical Genomics). Whereas groups at Universitat Pompeu Fabra (UPF) and Institut de Biologia Evolutiva (IBE) do research on evolution and how evolutionary processes create genetic variation and diversity within and between species, labs at the Centre for Genomic Regulation (CRG) apply medical and evolutionary genomics approaches to dissect human genomic variation and its role in human disease. Importantly, these two core topics converge on the study of human genomic variation and its implications in disease and therapies, which makes the European Genome-phenome Archive (EGA), hosted at the CRG, another central player in the EvoMG Program. Another key point of convergence is genome diversity. Within this area, the CRG is establishing together with the EBI-EMBL the Biodiversity Cell Atlas (BCA), and the IBE (with funds assigned via the European Reference Genome Atlas, ERGA and the Earth BioGenome Project, EBGP) are part of the Biodiversity Genomics Europe project (BGE) and of the Catalan Initiative for the Earth BioGenome Project (CBP).

 

4. Research institutes and funding partners

 

  • Centre for Genomic Regulation (CRG): The CRG is an international biomedical research institute of excellence, created in July 2000. It is a non-profit foundation funded by the Catalan Government through the Department of Business & Knowledge and the Department of Health, the Spanish Ministry of Science & Innovation, the "la Caixa" Banking Foundation, and includes the participation of Pompeu Fabra University. The mission of the CRG is to discover and advance knowledge for the benefit of society, public health and economic prosperity. The CRG believes that the medicine of the future depends on the groundbreaking science of today. This requires an interdisciplinary scientific team focused on understanding the complexity of life from the genome to the cell to a whole organism and its interaction with the environment, offering an integrated view of genetic diseases.
  • Universitat Pompeu Fabra, Department of Medical and Life Sciences (UPF-MELIS): MELIS is a research-intensive department of the Universitat Pompeu Fabra recognized with two María de Maeztu awards (2014 & 2018). It is situated within the Barcelona Biomedical Research Park (PRBB), home to several of Barcelona's most important biomedical research facilities. With more than 250 researchers working across 40 research groups, MELIS covers a broad spectrum of biological research topics and has strong productivity metrics (i.e. 861 scientific articles published in indexed journals between 2018 and 2022; 53% of which were published in D1 and 80% in Q1). It also submitted 35 priority patent applications, received 25 valorization grants, created 4 spin-offs and organized numerous outreach activities. These outcomes enable MELIS to broaden both its projection to society and its scientific visibility on a global scale.
  • Institute of Evolutionary Biology (IBE: CSIC-Pompeu Fabra University): The Institute of Evolutionary Biology (IBE) is a joint institute of the Spanish National Research Council (CSIC) and Pompeu Fabra University (UPF) created in 2008 in Barcelona. The IBE is committed to understanding the evolutionary mechanisms driving the emergence and maintenance of biodiversity, potentially leading to innovative conservation strategies. It does so with a collaborative and multidisciplinary scientific team that is always at the forefront of scientific-technical advances. To meet its endeavour, the IBE develops innovative research spanning genomic science, the analysis of ancient DNA, population dynamics, complex networks or artificial intelligence. The IBE is at the service of society, with the ultimate goal of promoting planetary well-being through its cutting-edge research, and also of informing citizens about its scientific advances towards this global objective.

 

5. Related initiatives worldwide

 

  • The Triangle Center for Evolutionary Medicine (TriCEM) is a nonprofit institute exploring the intersection of evolutionary science and medicine. The center is jointly operated by Duke University, North Carolina A&T State University, North Carolina Central University, North Carolina State University, and University of North Carolina at Chapel Hill. https://tricem.org/
  • The ASU Centre for Evolution and Medicine, from the University of Arizona, is a university-wide Presidential Initiative whose mission is to improve human health by establishing evolutionary biology as an essential basic science for medicine, worldwide. The Center brings leading scientists to ASU to join existing faculty in research that demonstrates the power of evolutionary biology to address problems in medicine and public health. https://evmed.asu.edu/
  • The Max Planck Institute for Biology of Ageing, aims to make fundamental scientific discoveries about the aging process and to elucidate the molecular, physiological and evolutionary mechanisms underlying ageing. The long-term research goal of the institute is to pave the way to healthier human ageing. Although it is not explicitly devoted to EvoMG, some of its research is carried out using evolutionary model organisms. https://www.age.mpg.de/en