Tailoring the analysis of whole genome sequencing to individual patients could double the diagnostic rates of rare diseases, finds a new study led by UCL researchers.
Nov 7, 2022
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Although Alzheimer's disease is one of the most studied pathologies due to its high prevalence, the molecular changes that cause astrocytes, a type of brain cell, to become reactive astrocytes, manifesting a very pronounced ...
Mar 18, 2022
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For the targeted treatment of a disease, information is needed about the course of the disease at molecular and cellular level. This is also true for the group of muscle diseases that include congenital muscular dystrophies ...
Nov 29, 2021
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Mitochondrial disorders affect around 1 in 4300 people and cause progressive, incurable diseases. They are amongst the most common inherited diseases but are difficult for clinicians to diagnose, not least because they can ...
Nov 3, 2021
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An analysis of electronic health records for 1.7 million Wisconsin patients revealed a variety of health problems newly associated with fragile X syndrome, the most common inherited cause of intellectual disability and autism, ...
Apr 12, 2021
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A new study by University of California researchers shows the promise of high-throughput DNA-sequencing technologies to improve prenatal diagnosis and pregnancy outcomes for women who have experienced an abnormal prenatal ...
Oct 8, 2020
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Early signs of cancer can appear years before diagnosis and developing tests for these genetic signs could provide new ways to spot cancer early, according to new research led by the Crick and EMBL-EBI, and supported by an ...
Feb 5, 2020
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Using a single-needle biopsy and new technology for tumor diagnosis developed by Baylor College of Medicine and the Broad Institute of MIT and Harvard, researchers have been able to provide a more detailed and wider window ...
Jan 27, 2020
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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 ...
Nov 7, 2019
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A report by researchers at Vanderbilt University Medical Center has shattered conventional wisdom about how cells, including cancer cells, shed DNA into the bloodstream: they don't do it by packaging the genetic material ...
Apr 15, 2019
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