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An investigation conducted by researchers at Karolinska Institutet has led to a discovery in breast cancer diagnostics and treatments that could reshape screening programs and clinical approaches. The study, published in JAMA Oncology, unravels the impact of rare genetic variants on interval breast cancers, providing new insights into tailored screening strategies.
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The p53 tumor suppressor protein is encoded by TP53, the most frequently mutated gene in cancer. A review article published in Nature Reviews Clinical Oncology by professor Klas G Wiman and colleagues at the Department of Oncology-Pathology describes how p53 could be used as a target for new cancer therapies.
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A new Swedish study shows that whole genome sequencing can detect clinically relevant genomic abnormalities in acute lymphoblastic leukemia, ALL, and has great potential to be implemented in the diagnostic setting. The study was carried out by researchers within the Clinical Genetics group at the Department of Molecular Medicine and Surgery, the Genomic Medicine Sweden for haematology and published in the scientific journal Frontiers in Oncology.
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An international team of researchers has developed a new method to deliver drugs into the inner ear, according to a new study in Science Translational Medicine. The discovery was possible by harnessing the natural flow of fluids in the brain and employing a little-understood backdoor into the cochlea. When combined to deliver a gene therapy that repairs inner ear hair cells, the researchers were able to restore hearing in deaf mice.
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A new study in Nature by an international team including researchers at Karolinska Institutet has identified the first genetic variant associated with disease severity in multiple sclerosis. The finding opens the door to the development of treatments that fight disease progression – a great unmet need facing people with MS.
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Almost a hundred experts from 27 countries took part in a hackathon on June 17–18 to identify diseases in 14 patients lacking diagnoses. “Four of them have now received an answer and we’re confident that more are to come,” says professor and consultant Ann Nordgren, who was one of the organizers of the event.
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Many men in northern Europe over the age of 60 suffer from the so-called Viking disease, which means that the fingers lock in a bent position. Now researchers at Karolinska Institutet, together with colleagues, have used data from over 7,000 affected individuals to look for genetic risk factors for the disease. The findings, which have been published in Molecular Biology and Evolution, show that three of the strongest risk factors are inherited from Neanderthals.
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A new Swedish study on the etiology of neuromuscular disorders has been published in the scientific journal Frontiers in Neurology. The study was carried out by researchers in the Rare Diseases group at the Department of Molecular Medicine and Surgery, Karolinska Institutet, in collaboration with doctors at Karolinska University Hospital.
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Researchers at Karolinska Institutet and Karolinska University Hospital have together with health economists at Linköping University analyzed costs for various methods to diagnose genetic causes of intellectual disability. The study, published in Scientific Reports, shows that the costs when using whole genome sequencing as a first-line diagnostic test were lower compared to chromosomal microarray analysis.
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Why is it that certain mammals have an exceptional sense of smell, some hibernate, and yet others, including humans, are predisposed to disease? In a major international research project where researchers at Karolinska Institutet participated, has surveyed and analysed the genomes of 240 different mammals. The results, now published in 11 articles in the journal Science, shows which regions have important functions in mammals.
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A new study published in Nature reports that a technology known as spatial omics can be used to map simultaneously how genes are switched on and off and how they are expressed in different areas of tissues and organs. This improved technology, developed by researchers at Yale University and Karolinska Institutet, could shed light on the development of tissues, as well as on certain diseases and how to treat them.
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Patients can experience 30 per cent fewer serious adverse reactions if their drugs are tailored to their genes, reports a study published in The Lancet. A European collaboration involving researchers from Karolinska Institutet suggests that a genetic analysis prior to drug therapy could significantly reduce suffering and healthcare costs.
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ARFID is strongly influenced by genetic factors, according to a twin study examining this relatively new type of eating disorder. The study has been published in the journal JAMA Psychiatry by researchers at Karolinska Institutet.
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When Svante Pääbo talked about the importance of Neanderthals, the audience in Aula Medica listened carefully. The Nobel Laureate in Physiology or Medicine explained, among other things, that we carry their genes and that they may have been more sensitive than we think.
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Svante Pääbo hasn’t even collected his 2022 Nobel Prize in Physiology or Medicine yet. Still, the director of the Max Planck Institute for Evolutionary Anthropology is already dreaming of making new ground-breaking discoveries.
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Schizophrenia patients have fewer connections between nerve cells. This is believed to be caused by genetic risk variants leading to an excessive elimination of nerve cell connections by the immune cells of the brain. Researchers at Karolinska Institutet now report in Nature Communications that the levels of protein from the relevant risk gene are elevated in first-episode patients and that inflammation further increases the expression of the risk gene. 
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Where do we originate from? And who are we? Thanks to Svante Pääbo, 2022 Nobel Laureate in Physiology or Medicine, we know more about what make us uniquely human. We also know what we have in common with our, now-extinct, closest relatives.
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From pregnancies and depression to COVID-19. Neanderthals are physically extinct, but their genes live on. For better or worse, they still affect our health today. We are publishing this timeline, previously published in the magazine Medicinsk Vetenskap, due to the fact that researcher Svante Pääbo has been awarded the Nobel Prize in Physiology or Medicine in 2022.
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Many people were delighted to hear that Professor Svante Pääbo has been awarded the 2022 Nobel Prize in Physiology or Medicine, particularly so Hugo Zeberg, researcher at Karolinska Institutet. He has collaborated with Svante Pääbo for years, not least on the work to find Neanderthal genes that can influence how ill different people become after contracting the COVID-19 virus.
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The Nobel Prize in Physiology or Medicine 2022 has been awarded to Svante Pääbo for his discoveries concerning the genomes of extinct hominins and human evolution.
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Depression is common in individuals with endocrine-metabolic disorders and vice versa. In a study involving 2.2 million people in the Swedish population, researchers at Karolinska Institutet confirmed that individuals with endocrine-metabolic disorders have increased rates of depression and found that there are also higher rates of depression in their siblings. The study is published in the American Journal of Psychiatry.
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Both children with type 1 diabetes and their closest family members are at increased risk of mental health problems compared with those without the disease, according to a large study by researchers at Karolinska Institutet published in the journal Diabetes Care. The findings underscore the need for psychological consulting for both children and their families in diabetes care.
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Primary cilia are signaling structures projecting off cell surfaces like antennae. In humans, many different cell types are ciliated. The molecular underpinnings of making and maintaining ciliary identities and functional specializations often are crucial for cell functionality. Recently, researchers have found how the main ciliogenic transcription factor protein controlling overall cilia biology can switch to control ciliary specializations and thereby alters cell behavioral output.
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Scientists have analysed DNA from more than 300,000 people with and without the psychiatric disorder in the largest genetic study of schizophrenia to date and have identified a great number of specific genes that could play important roles in the psychiatric disorder. A companion paper published in parallel strengthens these findings by pointing to a similar genetic and biological basis for this disorder. Both studies are published today in the leading international journal Nature.
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The major genetic risk variant for severe COVID-19, one we inherited from Neandertals, is associated with a 27 percent lower risk of HIV infection. This is according to a new study from Karolinska Institutet in Sweden and the Max Planck Institute for Evolutionary Anthropology in Germany published in the journal PNAS.
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Researchers from Karolinska Institutet have analysed blood and sperm samples from healthy parents to children with genetic syndromes and the results indicate that germline mosaicism is underestimated as a cause to syndromes and that the level of the genetic variant is higher in sperm than in blood.  The study was recently published in Molecular Genetics & Genomic Medicine.
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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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Karin Wallander at the research group Clinical Genetics, Department of Molecular Medicine and Surgery, will defend her thesis "Hereditary predisposition and prognostic prediction in cancer" on December 17, 2021. Main Supervisor is Emma Tham.
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Kristina Haugaa is the new Professor of Cardiology at the Department of Medicine in Huddinge, since October 11. "I'm eager and thrilled to conduct cardiology research at Karolinska Institutet".
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Audience: Medarbetare
Medicin, Huddinge
Obesity increases the risk of developing cancers of the digestive system and it is the person’s fat mass, rather than size, that is the main obesity-related risk factor for these cancer types, according to a new study published in the journal PLOS Medicine by researchers at the University of Cambridge and Karolinska Institutet.
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Determining who is the biological father of a child is a sensitive subject, but the answer can be crucial in important issues. In a nationwide study published in the Journal of Internal Medicine, researchers from Karolinska Institutet, by using two different models, have been able to show that the proportion of incorrectly established paternities in Sweden is as low as 1.7 percent, a figure that has decreased over time.
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Researchers at Karolinska Institutet, together with British colleagues, have conducted the largest study to date in search of genetic markers about cluster headache. In the long term, it can hopefully pave the way for more effective treatments. The study is published in the scientific journal Annals of Neurology.
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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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New review article looks at readiness prior to the implementation of genomics-based precision medicine in complex diseases. The extensive work has been led by researchers at Karolinska Institutet and Lund University and has been carried out together with some 30 researchers throughout Sweden. The results are now being published in the Journal of Internal Medicine, JIM.
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Sweden was the first country in the world to introduce open-identity sperm donation, whereby adult children are entitled to obtain information about their donors. Researchers at Karolinska Institutet have now explored how such contacts and relations affect the parents of these young men and women. The study, which is published in Human Reproduction, shows that mothers often find it easier to accept the new situation.
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Researchers at Karolinska Institutet have investigated how a newly developed algorithm in connection with gene analysis can be used to improve the possibilities of preventing premature vascular disease and death in individuals with the hereditary lipid disorder, familial hypercholesterolemia. The findings, published in the Journal of Internal Medicine, show how the method can lead to faster and more cost-effective investigations in such families.
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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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A large brain imaging study involving researchers at Karolinska Institutet demonstrates that same-sex sexual behaviour-related differences in the brain exist. Patterns in the brain that differentiate between men and women were less pronounced in non-heterosexual individuals, and some of the brain differences could be linked to a genetic predisposition for non-heterosexuality. The study is published in the scientific journal Human Brain Mapping.
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Liver transplantation is currently the only treatment available for the severe liver disease PSC. Now, however, researchers at Karolinska Institutet and Oslo University have discovered the first reported genetic mutation that causes PSC. The study, which is published in Science Translational Medicine, opens new paths to future treatments.
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Almost one in five people lacks the protein α-actinin-3 in their muscle fibre. Researchers at Karolinska Institutet now show that more of the skeletal muscle of these individuals comprises slow-twitch muscle fibres, which are more durable and energy-efficient and provide better tolerance to low temperatures than fast-twitch muscle fibres. The results are published in The American Journal of Human Genetics.
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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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Variants of nine genes increase the risk of developing Addison’s disease, a rare disease in which the immune system attacks the adrenal glands. That is according to the largest genetic study to date on patients with Addison’s disease. The findings help increase knowledge about what causes the disease. The study was conducted by researchers at Karolinska Institutet and University of Bergen, Norway, and is published in the journal Nature Communications.
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Samir El Andaloussi, researcher at the Department of Laboratory Medicine, has been awarded the 2020 European Research Council Consolidator Grant for the project “Release of engineered Extracellular vesicles for delivery of Biotherapeutics”.
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Researchers at Karolinska Institutet have studied the incidence and regional distribution of Alzheimer’s disease biomarkers in the brains of people with Down’s syndrome. The results can bring new possibilities for earlier diagnosis and preventive treatment of dementia. The study is published in Molecular Neurodegeneration.
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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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More than 10 percent of young and previously healthy people who develop severe COVID-19 have misguided antibodies that attack the immune system itself, and another 3.5 percent carry a specific genetic mutation. This is according to new research published in Science by an international consortium involving researchers at Karolinska Institutet in Sweden.
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Evaluating the genetic correlations across our phenotypes is of essential importance for understanding disease etiology and other potential causality. The new method – published in the journal Nature Genetics – vastly improves our power in estimating genetic correlations using the huge established resources from genome-wide association studies.
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Decades-long endurance training alters the activity of genes in human skeletal muscle that are important for metabolic health. This is according to a new study published in the journal Cell Reports by researchers at Karolinska Institutet in Sweden and the University of San Diego in the U.S. Sex differences found in untrained individuals were also dramatically reduced with long-term training. The results may have implications for metabolic disease prevention.
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Researchers at Karolinska Institutet have discovered that excessive degradation of the power plants of our cells plays an important role in the onset of mitochondrial disease in children. These inherited metabolic disorders can have severe consequences such as brain dysfunction and neurological impairment. The study is published in EMBO Molecular Medicine.
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09-06-2023