#Genodermatosis is a group of rare and complex genetic disorders, mainly affecting the skin, that can be difficult to diagnose. In a collaborative project with #ClinicalGenomicsUppsala, new diagnostic methods are developed to find the genetic cause for patients with these diseases. - With #LongReadSequencing we can now find genetic variants in complex regions of our genomes that we previously have not been able to identify. Long-read sequencing thereby might greatly impact on diagnostics of rare diseases, says Marie-Louise Bondeson, Professor and Clinical laboratory geneticist at Akademiska sjukhuset and leader of the work package focusing on inherited diseases at Clinical Genomics Uppsala. #precisionmedicine SciLifeLab Uppsala University https://lnkd.in/daPgs9sX
About us
● Develops, adapts and validates advanced molecular analyses as an end-to-end service for clinical and translational researchers and in collaboration with healthcare. ● Constitutes the technological basis for development of the diagnostic tests that are implemented within Genomic Medicine Sweden (GMS). ● Operates at Sweden’s seven universities with a medical faculty in close collaboration with the university hospitals.
- Website
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https://www.scilifelab.se/units/clinical-genomics/
External link for SciLifeLab Clinical Genomics
- Industry
- Biotechnology Research
- Company size
- 51-200 employees
- Type
- Educational
- Founded
- 2014
Employees at SciLifeLab Clinical Genomics
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Marcela Gallardo
Research Engineer at Clinical Genomics - SciLifeLab, KTH
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Manoj Bandaru
Experimental Geneticist | Lab Automation Engineer
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Luciano Fernandez
Research Advisor & Data Manager SciLifeLab Gothenburg
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Camille Clouard
Bioinformatician | Clinical Genomics | Cluster Computing | Computational Genomics
Updates
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We are thrilled to present the film “Finding the genetic cause for patients with genodermatoses” 🌟 This study, led by Maria Wilbe at Uppsala University, shows how new technologies (in this case long-read sequencing) can be implemented for clinical diagnostics and how #ClinicalGenomicsUppsala can contribute with bench-to-bedside service. SciLifeLab Akademiska sjukhuset
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The national Program for Academic leaders in Life Science (PALS) has awarded financial support to eight collaborative projects. One of these projects is a collaboration between WCMM Fellow, Associate Professor Francisca Lottersberger from Linköping University and Malgorzata Lysiak representing Clinical Genomics Linköping. The project will focus on the ultrasensitive assessment of genome stability and mutagenesis.
8 collaborative projects awarded funding to support and promote scientific interactions between researchers from different organizations and disciplines ↓ The national Program for Academic leaders in Life Science (PALS) is a network for SciLifeLab Fellows, SciLifeLab & Wallenberg National Program for Data-Driven Life Science (DDLS) Fellows & Wallenberg Centres for Molecular Medicine (WCMM) Fellows, representing researchers from ten Swedish universities and the Museum of Natural History (Naturhistoriska riksmuseet). “At SciLifeLab, we believe that bringing researchers together is the key to breaking new ground in science” says Disa Hammarlöf in the video. PALS offers excellent opportunities for experimental and computational scientists to meet in order to establish multi-disciplinary collaborations. The program is anticipated to contribute to strong national networks that could last for years to come and that will broadly enrich opportunities for excellence in life science. The Knut and Alice Wallenberg Foundation (Knut och Alice Wallenbergs Stiftelse) co-funds the program. Learn more about the PALS program and see the list of awarded projects at: https://lnkd.in/dxDsnZGY
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SciLifeLab Clinical Genomics reposted this
The #GMS560 gene panel, which was developed by the SciLifeLab Clinical Genomics platform and Genomic Medicine Sweden has recently been implemented for endometrial cancer at Akademiska sjukhuset. 🧬🏥 “Molecular subtyping of #EndometrialCancer patients using this panel will provide more accurate prognostic information and help to guide personalized treatment plans. This is a significant advancement for all patients with endometrial cancer”, says Patrick Micke, medical director at the Molecular Pathology unit, Academic Laboratory, Uppsala University Hospital. Lotte Moens Annica Pontén https://lnkd.in/dmVeyuK4
Molecular classification of endometrial cancer implemented in clinical routine practice
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The #GMS560 gene panel, which was developed by the SciLifeLab Clinical Genomics platform and Genomic Medicine Sweden has recently been implemented for endometrial cancer at Akademiska sjukhuset. 🧬🏥 “Molecular subtyping of #EndometrialCancer patients using this panel will provide more accurate prognostic information and help to guide personalized treatment plans. This is a significant advancement for all patients with endometrial cancer”, says Patrick Micke, medical director at the Molecular Pathology unit, Academic Laboratory, Uppsala University Hospital. Lotte Moens Annica Pontén https://lnkd.in/dmVeyuK4
Molecular classification of endometrial cancer implemented in clinical routine practice
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SciLifeLab Clinical Genomics reposted this
Välkommen till ett lunchseminarium om bred sekvensering för solida tumörer med GMS560-panelen! Talare 🔹 Patrick Micke, Överläkare och professor i patologi 🔹 Viktor Ljungström, ST-läkare, Klinisk patologi 📆 12 december 12:15-13:00 🌍 Enghoffsalen | Ingång 50, Akademiska sjukhuset, Uppsala Seminariet arrangeras av SciLifeLab’s kapabilitet för #precisionsmedicin och Precisionsmedicinskt centrum Uppsala. Anmäl dig på länken nedan https://lnkd.in/d3aSva7x
Du är inbjuden till Bred sekvensering för solida tumörer (GMS560): Praxis och utblick
ui.ungpd.com
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Revio Launch Day at Clinical Genomics Stockholm this week. Please contact us on support@clinicalgenomics.se regarding your PacBio Revio enquiry or project.
Senior Territory Account Manager, PacBio | Enabling the promise of genomics by providing high accuracy long-read sequencing.
We had a successful PacBio Revio Launch event yesterday at SciLifeLab Clinical Genomics Stockholm. Clinical Genomics Stockholm is now ready to sequence your project at their Revio platform. With their impressive sequencing infrastructure, they are able to offer you the right technology for your needs. Feel free to get in touch with us at PacBio or the Clinical genomics Stockholm Anna Lyander to discuss your long-read project. #sequencing #longreads #genomics
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The SciLifeLab site in Umeå welcomed the new director of SciLifeLab, Jan Ellenberg, and SciLifeLab board chair, Ylva Engstrom, for a full-day visit of the site. The day included tours of the local research infrastructures, lunch with representatives of the university, meetings with staff scientists who make the infrastructures accessible for national users within life science. The site director, Linda Sandblad, kicked the day off with an introduction of site Umeå, highlighting the strengths of the infrastructures being integrated with two universities, Umeå University and SLU - Swedish University of Agricultural Sciences, as well as Region Västerbotten. Tours of infrastructures started at the Swedish NMR Centre, followed by a meeting with Chemical Biology Consortium Sweden, tours of Swedish Metabolomics Centre and the Data Science Node, including High Performance Computer Center North (HPC2N), NBIS – National Bioinformatics Infrastructure Sweden, and Data Driven Life Science (DDLS). During the lunch with Umeå University representatives, including vice-chancellor Hans Adolfsson, Jan Ellenberg took the opportunity to present himself and his visions for SciLifeLab. The lunch followed with facility tours at SciLifeLab Clinical Genomics and Cryo-EM and FIB-SEM at Umeå Center for Electron Microscopy (UCEM). “The staff is key in running the infrastructures for the greater good of life science research, and meeting the people who do the work at the sites is very important and something I cherish”, Jan Ellenberg said, stressing the importance of working together across the sites in order to achieve shared ambitions and goals. Thanks all involved in making the visit a stepping stone for SciLifeLab to continue to expand and become accessible to all, all the way to Umeå in the north!
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SciLifeLab Clinical Genomics reposted this
Senior Territory Account Manager, PacBio | Enabling the promise of genomics by providing high accuracy long-read sequencing.
We had a successful PacBio Revio Launch event yesterday at SciLifeLab Clinical Genomics Stockholm. Clinical Genomics Stockholm is now ready to sequence your project at their Revio platform. With their impressive sequencing infrastructure, they are able to offer you the right technology for your needs. Feel free to get in touch with us at PacBio or the Clinical genomics Stockholm Anna Lyander to discuss your long-read project. #sequencing #longreads #genomics
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🎗 November is the #NeuroendocrineTumors Awareness Month 🎗 #ClinicalGenomicsUppsala is happy to have contributed to a recent multi-omics study of metastatic pancreatic neuroendocrine tumours (PanNETs) by Joakim Crona and colleagues. The results suggested that therapy driven disease evolution is an important hallmark of PanNETs. Great also to see that the comprehensive gene panel for solid tumors (GMS560) developed by Genomic Medicine Sweden and the Clinical Genomics platform is a useful tool also for research! 🎉 SciLifeLab #precisionmedicine https://lnkd.in/dq7rq7VS
The evolutionary history of metastatic pancreatic neuroendocrine tumours reveals a therapy driven route to high‐grade transformation
pathsocjournals.onlinelibrary.wiley.com