Autor: Clinical genetics
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Gene therapy shows promise for life-threatening inherited heart disease
A new gene therapy appears to be safe in patients diagnosed with Friedreich ataxia cardiomyopathy, a progressive and fatal inherited cardiac disease, according to a phase 1 clinical trial led by Weill Cornell Medicine researchers. The treatment may als…
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New open tool can facilitate the reuse of genomic data
The GCAT|Genomes for Life team, a strategic project of the Germans Trias i Pujol Research Institute (IGTP), has developed PolyGenie, a new tool designed to facilitate the exploration and reuse of genomic data by the research community. This initiative …
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New open tool can facilitate the reuse of genomic data
The GCAT|Genomes for Life team, a strategic project of the Germans Trias i Pujol Research Institute (IGTP), has developed PolyGenie, a new tool designed to facilitate the exploration and reuse of genomic data by the research community. This initiative …
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Lymphatic dysfunction drives heart valve disease in Marfan syndrome patients
Dysfunction in the lymphatic system has been identified as a hidden driver of life-threatening heart valve disease in patients with Marfan syndrome, according to a new Northwestern Medicine study published in the Journal of Clinical Investigation.
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Lymphatic dysfunction drives heart valve disease in Marfan syndrome patients
Dysfunction in the lymphatic system has been identified as a hidden driver of life-threatening heart valve disease in patients with Marfan syndrome, according to a new Northwestern Medicine study published in the Journal of Clinical Investigation.
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Newborn neurons routinely break then repair DNA during brain cortex formation, study reveals
Newborn nerve cells must squeeze through crowded, narrow spaces—through dense tissue, past other cells, and between fibers—to reach the areas where they form neural circuits in the brain cortex. In a study published in Nature, researchers at Kyoto Univ…
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Newborn neurons routinely break then repair DNA during brain cortex formation, study reveals
Newborn nerve cells must squeeze through crowded, narrow spaces—through dense tissue, past other cells, and between fibers—to reach the areas where they form neural circuits in the brain cortex. In a study published in Nature, researchers at Kyoto Univ…
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Key Alzheimer’s risk factor may behave differently in older Hispanic adults
Researchers at the USC Mark and Mary Stevens Neuroimaging and Informatics Institute (Stevens INI) at the Keck School of Medicine of USC analyzed brain imaging and clinical data from more than 17,000 participants across five major aging and Alzheimer’s …
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Key Alzheimer’s risk factor may behave differently in older Hispanic adults
Researchers at the USC Mark and Mary Stevens Neuroimaging and Informatics Institute (Stevens INI) at the Keck School of Medicine of USC analyzed brain imaging and clinical data from more than 17,000 participants across five major aging and Alzheimer’s …
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Genomics may improve diagnosis of neurodevelopmental disorders in Italy
A collaborative study used whole-genome sequencing to examine the genetic makeup of 110 children from Aosta Valley (Valle d’Aosta) with neurodevelopmental disorders and their parents. In a number of cases, researchers identified DNA variants that may b…