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BEHANDLING-God og treffsikker diagnostikk, behandling og rehabilitering

National training initiative to make better use of biobanks and health registry data

Alternative title: Nasjonalt treningsinitiativ for bedre utnyttelse av biobanker og helseregistre

Awarded: NOK 12.5 mill.

The outstanding quality and extent of population biobanks and health registries in Norway ensures a solid foundation for high quality research. In this project, our aim was to combine information about health and disease from three of the large population based health studies, with health registries to better understand underlying biological mechanisms and risk factors for disease. Of particular interest was the relationship between genes and the environment. To investigate this, we wanted to study health in relation to genetic information from approximately 80,000 individuals whom have participated in either the Nord-Trøndelag Health Study or The Tromsø Study, in addition to associations between genes, environment and cancer in The Norwegian Women and Cancer Study. There is a need for improved statistical methods and models to exploit the opportunities within these large-scale data sets. An important part of our project was therefore to develop such methods. We have focused on three specific topics; we have developed a test for high-dimensional mediation, we have studied different methods for integration of several sources (or layers) of high-dimensional data and developed an ensemble-based method for extracting information from these sources, and we have developed a robust method for variable screening in so-called ultra-high dimensional regression problems. In addition to this, we have studied the potential role of epigenetic mechanisms in the development of cutaneous melanoma. Another important part of our project was to establish a structured training and interdisciplinary forum for researchers in biostatistics and bioinformatics. This training was aimed at Postdoctoral fellows who wished to establish their own independent research careers. We believe this attempt was rather successful, based on a close collaboration related to common projects. The persons that were funded by the project are now hired in permanent academic positions, which we take as a sign of a successful training.

Prosjektet hadde tre hovedmålsettinger: Metodeutvikling, anvendelser på spesifikke problemstillinger, trening / utdanning av unge forskere med tilhørende kunnskapsoverføring. Vårt fokus har vært på metodeutvikling og kunnskapsoverføring. Vi har utviklet og testet ut statistiske- / machine learning metoder og algoritmer spesifikt rettet mot analyse av høydimensjonale data fra biobanker. Metodene er generelle og har et potensiale langt utenfor det gitte prosjektet. Vårt hovedfokus har vært på metoder for identifikasjon av nye biomarkører. Utvikling av nye metoder vil potensielt gi en bedre utnyttelse av data, gi et bedre kunnskapsgrunnlag og dermed kunne føre til bedre forebygging, tidligere oppdagelse og diagnostisering av sykdom, og bedre behandling. Vi har etablert fruktbare samarbeidsrelasjoner på tvers av institusjoner, både i Norge og internasjonalt. Disse vil vi bygge videre på i fremtiden. Vi er trygge på at våre samarbeidsrelasjoner og utdannede forskere vil føre til nye og interessante oppdagelser i årene som kommer.

We present an ambitious but realistic three year proposal to leverage existing digital biologic information from three of the largest prospective cohort studies in Norway, enriched with linkages to a comprehensive list of health registries, to better understand the biology for health and disease within diverse disease domains. We will build national methodological competence and capacity in the analysis of large-scale biobanks and health registries by focusing on relevant methodological developments. We will investigate complex ethical questions on the horizon, such as gene-based follow up of participants, in order to secure that the interest of large-scale biobank research and the participants are harmonious and compatible with an ethical commitment to the principle of reciprocity. We will expand our strong interdisciplinary research team within our three partner universities in Norway, and continue to collaborate with world leaders in biostatistics and bioinformatics. We will use this foundation to mentor and train six postdoctoral fellows at the multidisciplinary interface of applied and methodologically driven biostatistics and bioinformatics to meet the increasing complexity of the new era of precision medicine. Our proposal is in compliance with the overarching strategies of the partner universities to build strong statistical and bioinformatics expertise and capacity, and the proposal will be in synergy with our ongoing RCN and NIH supported efforts.

Publications from Cristin

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Funding scheme:

BEHANDLING-God og treffsikker diagnostikk, behandling og rehabilitering