Twenty-five years ago, an unusual inherited form of high blood pressure was first described in an Australian family. Its genetic cause, however, had remained elusive. Using modern sequencing methods, an international research ...
Feb 6, 2018
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Researchers have identified two, extremely rare genetic variants linked to Alzheimer disease (AD) for the first time.
Mar 29, 2019
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Researchers have used CRISPR to treat an adult mouse model of Duchenne muscular dystrophy. This marks the first time that CRISPR has successfully treated a genetic disease inside a fully developed living mammal with a strategy ...
Dec 31, 2015
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(Medical Xpress)—A team of researchers at the Max Planck Institute has found what they believe is the DNA mutation that led to a change in function of a gene in humans that sparked the growth of a larger neocortex. In their ...
Genes known to be essential to life—the ones humans need to survive and thrive in the womb—also play a critical role in the development of autism spectrum disorder (ASD), suggests a new study from Penn Medicine geneticists ...
Dec 12, 2016
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A mutation in a newly discovered small protein is connected to a significant increase in the risk for Alzheimer's disease, expanding the known gene targets for the disease and presenting a new potential avenue for treatment, ...
Sep 20, 2022
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Approximately one in every 100 babies is born with congenital heart disease (CHD), and CHD remains the leading cause of mortality from birth defects. Although advancements in surgery and care have improved rates of survival ...
Oct 9, 2017
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(HealthDay)—Teenage actor Gaten Matarazzo III was born with a rare genetic disorder that affects bone development. And ever since his Netflix series "Stranger Things" became a hit, public interest in the condition has shot ...
Feb 20, 2020
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A breakthrough study, led by researchers from the University of California, Irvine, results in the restoration of retinal and visual functions of mice models suffering from inherited retinal disease.
Oct 19, 2020
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A large team of researchers affiliated with several institutions in the U.S. and one in Germany has found evidence that makes a case for a dominant-negative effect with TP53 mutations. In their paper published in the journal ...
