(Medical Xpress)—In a recent post we traced mechanisms of mitochondrial quality control in the nervous system back to their origins in the womb, and hinted that there would soon be more to come on this topic. Conveniently, ...
A new study led by Indiana University School of Medicine researchers has found that a brain network condition called "explosive synchronization" could be the cause of extreme pain crises in people with sickle cell disease.
Apr 24, 2024
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New research led by a UC Davis Comprehensive Cancer Center clinical scientist shows blood tests used to hunt for cancer DNA may help detect cancers faster and guide the use of targeted therapies. The results of the study ...
Nov 22, 2023
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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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A new national study, led by researchers at Tufts Medical Center in Boston, has found whole genome sequencing (WGS) to be nearly twice as effective as a targeted gene sequencing test at identifying abnormalities responsible ...
Jul 13, 2023
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Up to 40% of rare diseases show facial alterations that enable researchers to identify some pathologies, and they can even help establish an early diagnosis. Historically, the visual evaluation and use of some classic anthropometric ...
May 10, 2023
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Using blood samples to study diseases that originate in the brain is a difficulty faced by psychiatric genetics in the search for markers of mental health disorders. Researchers at the Federal University of São Paulo (UNIFESP) ...
May 2, 2023
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Around 5,500 people with severe developmental disorders now know the genetic cause of their condition, thanks to a major nationwide study in the U.K. that will help improve diagnosis across the world.
Apr 12, 2023
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Using a new computational approach they developed to analyze large genetic datasets from rare disease cohorts, researchers at the Icahn School of Medicine at Mount Sinai and colleagues have discovered previously unknown genetic ...
Mar 16, 2023
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An international consortium co-led by Vanderbilt University Medical Center immunogeneticist Rubén Martínez-Barricarte, Ph.D., has discovered a new genetic disorder that causes immunodeficiency and profound susceptibility ...
Jan 21, 2023
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