Project Description


Building a method to dissect complex genetic traits using essential hypertension as a disease model


The Hypergenes project is focused on the definition of a comprehensive genetic epidemiology model of complex traits like essential hypertension and intermediate phenotypes of hypertension dependent/associated Target Organ Damages.

The aim is to develop an exhaustive model to disentangle the genetic bases of a complex disease using population genetic epidemiology as a methodological tool.


More specifically the Hypergenes project main objectives are:

  • To identify the common genetic variants (e.g. SNPs, haplotypes) relevant for the pathogenesis of EH and EH-associated TODs in a case-control study of 4.000 subjects recruited from historical European cohorts, using whole genome association techniques. The European cohorts have already been well characterised and well defined for EH, TOD as well as for environmental risk factors or confounders as ethnicity, diet, smoking habits and others.
  • To design and implement a set of computational tools to run such a complex project. These tools can support the deployment of the knowledge management needed to support the analysis and data mining related to the genetic, clinical and environment data across different populations.
  • To develop a comprehensive Biomedical Information Infrastructure (BII) to store molecular, clinical, and environmental data that will help to build a comprehensive model of disease.
  • To develop new methods, new protocols and new standards for genomic association analysis and related issues (power, replication, stratification), gene annotation and molecular pathways.
  • To develop and test a set of specialised Decision Support Systems (DSS) tools combining multiple relevant information sources (genetic, clinical and environmental).
  • To create a “Web-Based Portal” to allow access to the BII and to allow dissemination of knowledge.
  • To develop a simple, inexpensive genetic diagnostic chip, that can be validated thanks to our cohorts.
  • To strengthen the already existing clinician-basic scientist collaborative network on the genetic mechanisms of EH. Such stronger body will facilitate a common access and sharing to all the medical, clinical, environmental, biological and genetic information.
  • To generate educational tools to support professional training on genetics and genomics of complex traits, favouring mobility of PhD students, post-docs as well as joint PhD progtams on two sites. This mechanism will be used not solely as an instrument to tighten the cooperation among research groups, but also to promote an ad hoc European PhD programme in “Advanced Genomics, Bioinformatics and Biostatistical Methods for Complex and Multifactorial Diseases”.
  • To implement successful dissemination actions through participation in scientific meetings, in teaching tutorial session, encouraging publication of project results in high-impact scientific journals and providing feedback mechanism from the research community.


A consolidated research group with a renowned academic and industrial profile.

  • University of Milano – Department of Sciences and Biomedical Technologies
  • Katholieke Universiteit Leuven – Belgium
  • Jagiellonian University Medical College JUMC – Poland
  • IBM Israel – Science and Technology LTD – Israel
  • I.M.S. – Istituto di Management Sanitario S.r.l.- Italy
  • Institute of Internal Medicine, Siberian Branch of Russian Academy of Medical Sciences – Russian Federation
  • Imperial College of Science, Technology and Medicine IMPERIAL – UK
  • INSERM – Institut National de la Santè et de la Recherche Mèdicale
  • University of Warwick WMS – UK
  • Università degli Studi di Sassari – Italy
  • Universite de Lausanne – Switzerland
  • Pharnext S.A.S. – France
  • Softeco Sismat S.p.A. – Italy
  • Shanghai Institute of Hypertension – China
  • Charles University in Prague – Czech Republic
  • Università degli Studi di Padova – Italy
  • Medical University of Gdansk – Poland



University of Milano – Department of Sciences and Biomedical Technologies (IT)

European Commission, Seventh Framework Programme Health-2007-2.1.1-2

42 + 6 months


Hypergenes Flyer

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