Babies born to mothers who used fentanyl during pregnancy displayed similar facial and musculoskeletal abnormalities that suggest the emergence of a novel syndrome, according to research published in the journal Genetics ...
Oct 27, 2023
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Two-year-old Haoyang has likely just months to live—but the only medicine that can help his rare genetic condition is not found anywhere in China and closed borders due to the COVID-19 pandemic mean he cannot travel for ...
Nov 23, 2021
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A year ago Abul Bajandar, a Bangladeshi rickshaw-puller dubbed "tree-man" for the bark-like growths that once covered his body, appeared to have made a full recovery from the rare condition that has afflicted him for a decade.
Feb 2, 2018
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Dr. Alfonso Sabater pulled up two photos of Antonio Vento Carvajal's eyes. One showed cloudy scars covering both eyeballs. The other, taken after months of gene therapy given through eyedrops, revealed no scarring on either ...
Jul 24, 2023
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Consider for a moment that your life is dominated by spontaneous nosebleeds, chronic stomach hemorrhaging, persistent anemia and a complex constellation of other manifestations, some potentially life-threatening.
New research led by the Murdoch Children's Research Institute (MCRI), has combined gene editing technology with stem cell kidney regeneration to correct a patient's gene mutation.
May 4, 2018
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Clemson University faculty have been awarded a grant from the National Institutes of Health to investigate the use of 3-D imaging that could allow for quicker diagnosis of children with Phelan-McDermid syndrome, a rare genetic ...
Oct 10, 2018
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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 ...
Researchers at Sanford Burnham Prebys Medical Discovery Institute (SBP) have led a preclinical study demonstrating that the drug palovarotene suppresses the formation of bony tumors (osteochondromas) in models of multiple ...
Nov 20, 2017
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WA scientists may have found a cure for the crippling muscle condition McArdle disease, using a drug already approved for use in humans.
Jan 15, 2015
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