Collaboration

Clinical Genomics Uppsala frequently engages in collaborative projects with industry and academia. Our contribution to these partnerships can for example include:

Development of novel diagnostic methods
Testing of new products
Characterization of patient material

Please contact us if you are interested in initiating a new collaborative project with us.

Photo: Mikael Wallerstedt

Examples of past and present collaborative projects

Ultrasensitive variant detection

In collaboration with Rarity Bioscience, we are evaluating the clinical potential of the superRCA method for ultrasensitive variant detection. We currently conduct a study where the method is used for early detection of relapse in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS).

We also collaborate with Prof. Eva Hellström-Lindberg and Dr. Magnus Tobiasson on a clinical trial focusing on sensitive follow-up after stem-cell transplantation in myelodysplastic syndrome (MDS) using digital droplet PCR.

Related publication

Tobiasson M, Pandzic T, Illman J, Nilsson L, Weström S, Ejerblad E, Olesen G, Björklund A, Olsnes Kittang A, Werlenius O, Lorentz F, Rasmussen B, Cammenga J, Weber D, Lindholm C, Wiggh J, Dimitriou M, Moen AE, Yip Lundström L, von Bahr L, Baltzer-Sollander K, Jädersten M, Kytölä S, Walldin G, Ljungman P, Groenbaek K, Mielke S, Jacobsen SEW, Ebeling F, Cavelier L, Smidstrup Friis L, Dybedal I, Hellström-Lindberg E. Patient-Specific Measurable Residual Disease Markers Predict Outcome in Patients With Myelodysplastic Syndrome and Related Diseases After Hematopoietic Stem-Cell Transplantation. J Clin Oncol. 2024

Collaboration within Genomic Medicine Sweden

We are engaged in a range of projects aiming to develop and implement improved diagnostic methods that are performed in collaboration between the national Clinical Genomics platform and GMS. Examples of projects are listed below.

Implementation of short-read whole-genome and transcriptome sequencing for diagnostics of acute leukemias, in collaboration with Illumina.
Implementation of long-read whole-genome sequencing for diagnostics of rare diseases, in collaboration with PacBio (LRS1000+ project).
National harmonisation and update of the GMS solid gene panel according to recent clinical recommendations.
Development of methods for analysis of circulating tumor DNA (ctDNA) in liquid biopsies for diagnostics in the absense of a tissue sample or early detection of relapse.
Evaluation of the ability to reliably detect pathogens and predict antibiotic resistance directly from patient samples using culture-independent metagenomic sequencing in comparison to conventional culture-based methods.
Examination of how nationally coordinated analysis and cross-regional sharing of whole-genome sequencing data from resistant bacteria can enhance infection control and national surveillance.

Related publication

Berglund E, Barbany G, Orsmark-Pietras C, Fogelstrand L, Abrahamsson J, Golovleva I, Hallböök H, Höglund M, Lazarevic V, Levin LÅ, Nordlund J, Norèn-Nyström U, Palle J, Thangavelu T, Palmqvist L, Wirta V, Cavelier L, Fioretos T, Rosenquist R. A Study Protocol for Validation and Implementation of Whole-Genome and -Transcriptome Sequencing as a Comprehensive Precision Diagnostic Test in Acute Leukemias. Front Med 2022