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New findings reveal an advanced, unexpected two-way communication between the function and organization of chromosomes in the cell nucleus. Previous research shows that the organization of chromosomal DNA into loops regulates gene reading (transcription) and chromosome copying (replication). The new results show that, in turn, transcription and replication control chromosome looping, thus revealing a new interplay known to be important in avoiding diseases, such as cancer.
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Researchers at Karolinska Institutet have mapped how the parasite Trypanosoma cruzi forms new variants that are more effective at evading the immune system and causing disease. Their findings can give rise to new methods for diagnosing, preventing and treating Chagas disease, which affects millions of people in Central and South America, causing thousands of deaths every year. The study is published in the journal eLife.
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While the large proportion of our genome that does not instruct our cells to form proteins has been harder to study than protein-coding genes, it has been shown to have vital physiological functions. Scientists at Karolinska Institutet have now developed new high-precision tools able to identify what these noncoding sequences do. The study, which is published in the journal Nature Genetics, may eventually contribute to the development of new, targeted drugs.
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Using a technique called spatial transcriptomics, researchers at Karolinska Institutet have analysed the gene expression in the mouse colon and created a map showing where in the tissue individual genes are expressed. When they superimposed previously known human transcription data onto the map, the researchers gained new insights into inflammatory bowel disease (IBD). The study is published in the journal Nature Communications.
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An international metastudy led by researchers at Karolinska Institutet has identified a specific gene variant that protects against severe COVID-19 infection. The researchers managed to pinpoint the variant by studying people of different ancestries, a feat they say highlights the importance of conducting clinical trials that include people of diverse descents. The results are published in the journal Nature Genetics.
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Very few proteins in the body have a change that makes them unique compared to the corresponding proteins in Neanderthals and apes. Researchers at the Max Planck Institute for Evolutionary Anthropology in Germany and Karolinska Institutet in Sweden have now studied one such protein, glutathione reductase, which protects against oxidative stress. They show that the risk for inflammatory bowel disease and vascular disease is increased several times in people carrying the Neanderthal variant.
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Analysing molecular characteristics and their variation during lifestyle changes, by combining digital tools, classical laboratory tests and new biomolecular measurements, could enable individualised prevention of disease. This is according to a new study from Karolinska Institutet in Sweden and the University of Helsinki in Finland published in the journal Cell Systems. The researchers show what a proactive healthcare model could comprise and how it could help in maintaining good health.
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Analysing all the proteins that exist in a tissue type (the so-called proteome) can provide vital information on the causes of diseases and how they can best be treated. We talk to Janne Lehtiö, professor at the Department of Oncology-Pathology, about proteome-based medicine and what it can contribute to personalised cancer therapy.
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In March 2020, thousands of researchers across the globe joined forces to answer the question of why some COVID-19 patients develop a severe, life-threatening disease, while others manage with mild or no symptoms. A comprehensive summary of their findings to date, based on the analyses of nearly 50,000 patients and published in Nature today, reveals 13 genetic regions that are strongly associated with infection or severe COVID-19.
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More than 1,200 people with rare diseases have received a diagnosis thanks to the integration of large-scale genomics into the Stockholm region’s healthcare system. This is according to a study from Karolinska Institutet in Sweden that analysed the result of the first five years of collaboration on whole genome sequencing between Karolinska University Hospital and SciLifeLab. The work, published in Genome Medicine, constitutes a major leap forward in the emerging field of precision medicine.
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Last year, researchers at Karolinska Institutet and the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany showed that a major genetic risk factor for severe COVID-19 is inherited from Neandertals. Now the same researchers show, in a study published in PNAS, that Neandertals also contributed a protective variant. Half of all people outside Africa carry a Neandertal gene variant that reduces the risk of needing intensive care for COVID-19 by 20 percent.
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A new paper shows that differences in plasma protein biomarker levels are controlled by hundreds of genetic variants across the human genome, and that these insights can be used to predict which drug targets that are likely to be effective future medicines. The study has been published in the October issue of Nature Metabolism.
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A study published in Nature shows that a segment of DNA that causes their carriers to have an up to three times higher risk of developing severe COVID-19 is inherited from Neandertals. The study was conducted by researchers at Karolinska Institutet and Max Planck Institute for Evolutionary Anthropology.
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Making the latest research results available to doctors increases the opportunities for finding better individualised cancer treatment. For a few years, researchers at Karolinska Insititutet and several other universities have been working on building a digital tool which will make global genomic data easily available as support for treatment decisions.
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A new study has been initiated to evaluate whole-genome and RNA-sequencing as a first line diagnostic approach for patients in Sweden with acute leukemia. The study is conducted jointly by the national R&D platform Genomic Medicine Sweden and the biotech company Illumina – and is coordinated from Karolinska Institutet.
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Researchers at Karolinska Institutet have developed a new sequencing method that makes it possible to map how DNA is spatially organised in the cell nucleus – revealing which genomic regions are at higher risk of mutation and DNA damage. The technique is described in an article published in the scientific journal Nature Biotechnology.
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Whole-genome sequencing can be used to diagnose intellectual disability more accurately than other methods of genetic analysis, researchers at Karolinska Institutet report in the scientific journal Genome Medicine. Whole-genome sequencing using analytical tools developed by the researchers will now be introduced for first-line clinical diagnosis at Karolinska University Laboratory in Sweden.
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Researchers at Karolinska Institutet have developed a new cheap method that can identify highly heterogeneous tumours that tend to be very aggressive, and therefore need to be treated more aggressively. The technique is presented in the scientific journal Nature Communications.
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Researchers have developed a new variant of the gene editing technique CRISPR-Cas9 that has the potential to increase precision during gene therapy in humans. The new variant reduced unintended changes in DNA compared to its wildtype, suggesting it could play a role in gene therapies that require high precision. The study by researchers from Karolinska Institutet’s Ming Wai Lau Centre of Reparative Medicine in Hong Kong is published in the journal PNAS.
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People – or more specifically just Swedes – are more like chimpanzees than previously known. This is indicated in a genetic mapping of one thousand Swedish individuals, where new DNA sequences that should be included in the reference genome have been identified. The study is published in the scientific journal Molecular Biology and Evolution.
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Knowledge of a newly discovered genetic disorder, which means that a person cannot produce the protein TXNIP (thioredoxin interacting protein) in their cells, can open for the development of new diabetes drugs. This is shown in a study from Karolinska Institutet published in the journal Diabetes.
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Professor Janne Lehtiö and coworkers at the department of Oncology-Pathology have published an article in Nature Communications describing their new Integrated Proteogenomics Analysis Workflow (IPAW). The method enables a more reliable identification of novel peptides.
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