These research infrastructures are used primarily for disease genomics and genetics, prevention research and identification of risk factors, precision medicine and analysis of gene-environment-drug interactions.

Genomics infrastructures in Uppsala have provided high-quality services to clinical researchers and clinicians for two decades and are accredited by SWEDAC according to the European quality standard ISO/IEC 17025.

The SNP/SEQ technology platform and the Uppsala Genome Center, together with a genome centre at the Royal Institute of Technology in Stockholm, make up the National Genomic Infrastructure (NGI), which aims to offer genotyping and next-generation sequencing services of high quality using the latest technology to academic researchers in Sweden.

Clinical Genomics Uppsala established an early focus on precision medicine and has been set up jointly by Uppsala University, Uppsala University Hospital and the Science for Life Laboratory (SciLifeLab) to catalyse the transition of novel research findings into molecular diagnostics for clinical use.

Through Genomic Medicine Sweden (GMS), a national resource, academia can work together with healthcare providers and national infrastructures, such as SciLifeLab and Biobank Sweden, to turn new knowledge into improved healthcare. GMS forms a strong foundation for researchers to better understand why diseases occur and how new forms of treatment can be developed.

In the evaluation of human microbial pathogens, the Microbial Single Cell Genomics facility is unique, for example, in exploring host-pathogen interactions, microbial diversity and infection biology. The unit also capacitates work on live microbial pathogens and host-pathogen complexes (including biosafety level 3, BSL3) and can thereby serve a wide range of research areas.

In recent years, new large-scale molecular methods have been developed, potentially allowing the identification of new early clinical biomarkers and the possibility of unravelling disease mechanisms and developing strategies for precision medicine. Therefore, large-scale molecular phenotyping research infrastructures are now instrumental in both understanding the etiological pathways of disease development and in evaluating disease progress.

Uppsala University and Region Uppsala accommodate and continuously develop cutting-edge methods at such resources for the analyses of transcriptomics, metabolomics, proteomics and microbiota analyses. These methods can be used to analyse fresh tissue/blood and biobank patient samples, including samples collected before disease onset linked to biobank material collected at cohort entry.

The Academic Laboratory provides products, assays, support and consultations both to the health and medical care sector and also to research projects and clinical trials.

Uppsala Biobank Laboratory is an academic platform that can offer researchers and companies analysis of biomarkers and evaluation of methods and instruments. This infrastructure has a main focus on biomarkers for cardiovascular diseases.

The Glycosaminoglycan Structural Analysis Platform offers an analysis of glycosaminoglycan (GAG) structure and turnover, which requires specialised knowledge since GAG synthesis is not template-driven, as is the case with RNA and protein.

Large-scale targeted and untargeted metabolomics is a rapidly developing field. The Swedish Metabolomics Centre is the national research infrastructure for all types of metabolomics, with services provided at nodes in Uppsala, Umeå and Gothenburg.

Last modified: 2022-08-18