Tag: <span>genetic condition</span>

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A weekly injection could replace painful daily treatment for rare genetic condition

by Rutgers University Credit: CC0 Public Domain Rutgers Health researchers have found that a weekly injection of diabetes medication could replace painful daily hormone shots for people with a rare genetic form of lipodystrophy that leaves patients with almost zero fat tissue, according to a study in The New England Journal of Medicine. Congenital generalized lipodystrophy (CGL), which affects...

AI accurately diagnoses genetic condition from facial photographs
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AI accurately diagnoses genetic condition from facial photographs

August 12, 2024 by Yale School of Medicine Credit: Pixabay/CC0 Public DomainA Yale School of Medicine team reports in a new study that an artificial intelligence (AI) model was able to reliably diagnose people living with Marfan syndrome from a simple facial photograph. Marfan syndrome is a genetic disorder, affecting about 1 in 3,000 people,...

A wearable device to assist individuals with the rare genetic condition PIEZO2-LOF
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A wearable device to assist individuals with the rare genetic condition PIEZO2-LOF

by Ingrid Fadelli, Medical Xpress Credit: Kodali et al. (2022) The Piezo-type mechanosensitive ion channel component 2, or PIEZO2, is a protein coding gene that has been linked to mechanically-activated (MA) cation channels, which connect mechanical forces to biological signals. The PIEZO2 encoded protein can quickly adapt MA currents in somatosensory neurons, which are responsible...