A multi-disciplinary team of researchers has developed a way to monitor the progression of movement disorders using motion capture technology and AI.
Jan 22, 2023
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49
Researchers from the Guy Rouleau Laboratory affiliated with the CHUM Research Centre and the CHU–Sainte-Justine Research Centre have discovered the genetic cause of a rare disease reported only in patients originating from ...
Sep 6, 2012
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An international team of scientists and doctors has identified a new disease that results in low levels of a common protein found inside our cells.
Dec 8, 2017
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195
Gene therapy might soon offer a new option for children with a rare genetic disorder that damages tissues throughout the body, researchers are reporting.
Nov 18, 2021
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20
The region of DNA associated with Huntington's disease has been shown to grow throughout life and contribute towards disease progression.
Oct 10, 2019
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6
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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81
Three new genetic variants that regulate gene expression in the arteries are connected to fibromuscular dysplasia, an arterial disease that can cause dangerous consequences for the heart and vessels, according to a new study.
Oct 15, 2021
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61
A new ultra-rapid genome sequencing approach developed by Stanford Medicine scientists and their collaborators was used to diagnose rare genetic diseases in an average of eight hours—a feat that's nearly unheard of in standard ...
Jan 12, 2022
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71
Progeria is a rare genetic disease that mimics the normal aging process at an accelerated rate. Symptoms typically appear within the first year of life, and individuals with the disease develop thin, wrinkled skin, fragile ...
Dec 10, 2015
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154
A new research report published in The FASEB Journal will help ophthalmologists and scientists better understand a rare genetic disease that causes increased susceptibility to blue light, night blindness, and decreased vision ...
Aug 31, 2011
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