CISLD Genomics Department
@CISLD_SI
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Department of Genomics at Clinical Institute of Special Laboratory Diagnostics at University Children's Hospital, UMC Ljubljana
Ljubljana, Slovenia
Joined December 2021
🔬 Iščemo mladega raziskovalca! Raziskuj epigenetske biomarkerje sladkorne bolezni tipa 1 v vrhunskem genetskem laboratoriju @CISLD_SI, v programsko skupini @TBattelino na @ukclj Začetek: jesen 2025 Prijave do 20. 6. 2025 👉 jernej.kovac[at] https://t.co/NuP1ZcXR1u
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Our new study published in @AJPCardio Can we better detect insulin resistance and early metabolic complications in children with obesity using a simple 2-point test? “Enhanced OGTT for early detection of IR & metabolic complications” 📄
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Vabljeni k sodelovanju! Slovenski Referenčni Genomski Projekt #srgp
🧬 Slovenski Referenčni Genomski Projekt odpira vrata natančnejši diagnostiki in ciljanemu zdravljenju. Več znanja = boljše terapije! 📢 Leta 2026 bo ponovno zbiranje vzorcev prostovoljcev. Prijavite se že zdaj: info.srgp[at] https://t.co/NuP1ZcXjbW Več: https://t.co/IyjGo3Krtl
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Nova raziskovalna programska skupina prof. dr. Tadeja Avčina in nove raziskovalne priložnost za podoktorske raziskovalce na področju imunologije in redkih bolezni.
🔬 Priložnost za podoktorske raziskovalce! Pridružite se ekipi @CISLD_SI pri raziskovanju redkih imunoloških bolezni. 💡 Napredne tehnike genomike, pretočne citometrije in mednarodni projekti. Pošljite prijavo do 1.1.2025! 📩 jernej.kovac@kclj.si #znanost #imunologija #raziskave
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Our team! 🎉🎉👏🏻👏🏻
Our paper on ability of @nanopore tech to detect low-level heteroplasmy events in mitochondrial DNA is out in @SciReports. Big shoutout to our lead author, Barbara Slapnik, for her hard work & dedication! And to whole team for invested energy and time! https://t.co/BrG7wMKHCw
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Last week we hosted international workshop on genomics in newborn screening. #genomics
#newbornscreening
#science
#health
#prevention
#precisionprevention
We hosted a workshop on genomics in newborn screening last week. It took some time to collect all the impressions. It feels great 😀. New friends and new collaborations will grow out of this meeting. Very proud that I was a part of the organisation team. https://t.co/xkke6qeLPT
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Just published paper on LPL deficiency in Slovenia and Pakistan.
Our case series and systematic review on LPL deficiency from Slovenia and Pakistan is just published in @FrontEndocrinol
https://t.co/FYLouJar2m
@DrFouziaSadiq @CISLD_SI
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Our research team published an interesting study into the epigenetic modifications in type 1 diabetes. Work done with an innovative technology from @nanopore. #methylation
#genomics
#nanopore
#longreadsequencing
#science
Thrilled to announce the publication of our research on DNA methylation linked to glycemic control quality! Abnormal patterns emerged in key pathways associated with t1D pathology, even before clinical signs appeared, in individuals with poorly managed T1D
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Being part of the GDI project is quite a fulfilling experience. The first 18 months taught us a lot, we had a lot of fun and a multitude of really in depth conversations with experts from all over Europe.
🎉 @GDI_EUproject is 18 months old! Read our latest news to find out the project’s highlights in the past few months and the future plans. ➡️ https://t.co/kIvCjS5ffR
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Dobrodošli!
🌟 Iščemo bioinformatika! 🧬 Pridružite se nam na Pediatrični kliniki @ukclj in s svojim znanjem pomagajte izboljšati obravnavo najbolj ranljivih! 💡 Razvoj, implementacija in vzdrževanje bioinformatskih cevovodov. 🧬 Podrobnosti: (jernej.kovac[at]https://t.co/NuP1ZcXjbW).#deli
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A study of #miRNA in Wilms tumor, the most common kidney #cancer in #children, was published today. Led by @Tine_Tes, researchers @ukclj characterized complete #transcriptome involved in the Wilms tumor. #health
#Pediatrics
#sequencing
#RNA
#DNA
#Science
https://t.co/AExUTsgi7U
mdpi.com
Our study aimed to identify relevant transcriptomic biomarkers for the Wilms tumor, the most common pediatric kidney cancer, independent of the histological type and stage. Using next-generation...
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We present a patient with PRS-I enzyme deficiency due to a novel pathogenic variant in the PRPS1 gene, who presented with gross motor impairment, severe sensorineural deafness, balance issues, ataxia, and frequent respiratory infections.
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The power of IT in genomics! 💻 We're thrilled to showcase path of our GPU computing implementation, turbocharging bioinformatics analysis in human genetics. Because groundbreaking discoveries need groundbreaking tech! 🚀 #Bioinformatics #Genomics #HighPerformanceComputing 🧬💡
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Molecular #evolution isn't just history - it's happening in us, right now! 🧬 Excited to share evidence of a heritable retransposition event and the birth of a novel (pseudo)gene in humans. Stay tuned as we unravel the dynamic tapestry of our genome! #MolecularEvolution 🔬🚀
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Unraveling the mysteries of children developing MIS-C post-#COVID19 infection, at the single-cell level 🧬🔬 Our initial findings & method development in #singlecell genomics and transcriptomics! Stay tuned as we share our results. #MISC #PediatricResearch 💡🚀
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Diving into the world of miRNA in Wilms tumors! 🔬 Could there be a novel early biomarker hidden in these tiny molecules? We hope to find some answers that will help the future of #PediatricOncology. Stay tuned for potential exciting discoveries! #miRNA #WilmsTumor 🧬💡
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Diving into mitochondrial research with long-read sequencing! 🧬 Simultaneously detecting mutations and collecting methylation profiles. It's a new era in #Genomics! #LongReadSequencing #MitochondrialDisease 🔬💥
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