Geneticists at Emory University School of Medicine have demonstrated a method that enables the routine amplification of all the genes on the X chromosome. The technology allows the rapid and highly accurate sequencing and ...
Oct 18, 2011
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Children who are born severely ill or who develop serious illness in the first few weeks of life are often difficult to diagnose, with considerable implications for their short and longer-term care. Whole genome sequencing ...
Jun 18, 2018
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Researchers at the Centro Nacional de Investigaciones Cardiovasculares Carlos III (CNIC) have demonstrated the crucial role of the NOTCH signaling pathway in the development of a fundamental heart structure, the heart valves. ...
Apr 29, 2016
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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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A cancer diagnosis tells you that you have cancer, but how that cancer will progress is a terrifying uncertainty for most patients. Researchers at Cold Spring Harbor Laboratory (CSHL) have now identified a specific class ...
Dec 11, 2018
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Researchers at Columbia University Medical Center (CUMC) and collaborators have identified a genetic mutation that causes congenital malformations of the kidney and urinary tract, a common form of birth defect and the most ...
Jul 17, 2013
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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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Scientists have identified a new genetic disease, which causes some children's brains to develop abnormally, resulting in delayed intellectual development.
Jun 24, 2022
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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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Treating children with epilepsy has traditionally been a matter of trial and error, trying different drugs one after the other. In the one-third of patients for whom the drugs do not work and seizures continue, doctors consider ...
Sep 11, 2023
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