A new publication shows that a Polygenic Risk Score could improve risk prediction and influence clinical decision-making in familial breast cancer. Clinical Genomics Uppsala contributed with assay development, laboratory work and bioinformatic analysis.

In a joint technology development project (TDP) funded by SciLifeLab, Clinical Genomics Uppsala and the National Genomics Infrastructure (NGI) develop targeted long-read sequencing towards clinical practice. 

Clinical Genomics Uppsala has benchmarked the next-generation sequencing based LymphoTrack assay to detect clonal rearrangements in acute lymphoblastic leukemia against conventional methods. The assay has now been implemented in clinical routine, enabling detection of more potentially relevant clones to monitor during minimal measurable disease follow-up. 

Tatjana Pandzic and Peter Hollander have been appointed as leaders of the hematology work package at Clinical Genomics Uppsala (CGU). The joint leadership will strengthen the work in hematopathology at CGU.

Clinical Genomics Uppsala has strengthened its focus on infectious diseases by establishing a new work package for microbiology in collaboration with Uppsala University Hospital. The initial projects focus on development of improved methods for SARS-CoV-2 diagnostics and monitoring.  

Clinical Genomics Uppsala has been involved in a project aiming at validating the so-called superRCA method for ultrasensitive mutation detection for clinical use. The work has now been published in Nature Communications. 

Since April 2022, Ulf Gyllensten is the director of Clinical Genomics Uppsala (CGU). His strong translational research profile and extensive experience from different roles at SciLifeLab will be highly valuable for CGU.

Clinical Genomics Uppsala receives a grant from Swelife and Medtech4Health – Collaboration project for better health together with Rarity Bioscience, Uppsala University and Karolinska Institutet. The aim of the project is to implement the ultrasensitive mutation detection method, SuperRCA, for precision diagnostics and detection of relapse in acute myeloid leukemia and myelodysplastic syndrome.

Clinical Genomics Uppsala has recently recruited Ida Höijer to advance the development of clinical applications of long-read sequencing. Ida performed her PhD studies on long-read technologies, and has been invited to present her work at ESHG and at Harvard Medical School. 

The Clinical Genomics platform and Genomic Medicine Sweden has published a study protocol describing an ongoing national study aiming to assess whether whole-genome and whole-transcriptome sequencing can replace current diagnostic methods in acute leukemias. 

Please join Clinical Genomics Uppsala and Mission Bio for a webinar highlighting the key advantages of multi-omics single-cell technology on Thursday, March 17 at 10:00-11:00. 

The Clinical Genetics department at Uppsala University Hospital now offers several new gene panels for diagnostics of hereditary disorders. The gene panels were developed in collaboration with Clinical Genomics Uppsala.

A new technology for sensitive detection of mutations is the innovation behind the company Rarity Bioscience. Clinical Genomics Uppsala has contributed by evaluating the clinical potential of the method.

Genomic Medicine Sweden (GMS) recently received funding for continued introduction of precision medicine into Swedish healthcare. Clinical Genomics Uppsala is the hub of the initiative in Uppsala. 

A study published in Leukemia has revealed that loss of chromosome Y and clonal hematopoiesis often co-occur in ageing men. Clinical Genomics Uppsala performed gene panel sequencing and analysis of sequence data.

The Clinical Genomics platform, in collaboration with Genomic Medicine Sweden, the National Pandemic Center and the National Genomics Infrastructure, has received 8 MSEK in the SciLifeLab call for laboratory preparedness for pandemics.

Members from the Clinical Genomics Uppsala and Genomic Medicine Center Uppsala teams are co-authors on several articles in a special issue about precision medicine in Läkartidningen. 

Lucia Cavelier and collaborators have been granted 1.9 MSEK ALF funds for IT solutions and further development of large-scale sequencing at Clinical Genomics Uppsala.

Please join us for a webinar about the Mission Bio Tapestri Platform on Wednesday, March 10 at 10:00-11:00. 

Clinical Genomics Uppsala will soon expand its service repertoire with single cell analyses using the Tapestri Platform from Mission Bio.

Clinical Genomics Uppsala has developed a visualization tool to support interpretation of chromosomal abnormalities using non-invasive prenatal testing (NIPT).

A research project for early detection of relapse in patients with myelodysplastic syndrome (MDS) has been granted 10 million SEK by the Tobias Stiftelsen. The genetic analyses are carried out at Clinical Genomics Uppsala.

With a focus on Uppsala University Hospital’s laboratory, the latest issue of the staff magazine Ronden highlights the continuing growth of precision medicine.

2020-09-23
A study investigating the prevalence and significance of clonal hematopoiesis of indeterminate potential (CHIP) and involving several members of Clinical Genomics Uppsala (CGU) was published in the American Journal of Hematology.

2020-09-03
A new collaboration between MEGALiT (A MolEcularly Guided Anti-Cancer Drug Off-Label Trial) and Genomic Medicine Sweden (GMS) aims to implement precision medicine on a national level by combining precision diagnostics and treatment.

2020-07-29
A study performed at Clinical Genomics Uppsala (CGU) using an NGS-based method for gene fusion detection in hematological malignancies has been published in BMC Medical Genomics.  

2020-05-28
In a new collaborative study between Illumina and Genomic Medicine Sweden (GMS), whole-genome and RNA sequencing will be evaluated as primary diagnostic methods for acute leukemia patients in Sweden. The aims of the study are to simplify the diagnostics pipeline, as well as being able to offer better follow-up of the patients.