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 new study published in The Lancet, led by a Liverpool based research collaboration, has identified the first effective treatment for a rare genetic condition known as alkaptonuria (AKU).
Oct 8, 2020
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Ultra-rapid genetic testing can transform the diagnosis and treatment of critically ill children with suspected genetic conditions, according to an Australian Genomics study.
Jun 25, 2020
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A team of researchers at CHU Sainte-Justine and Université de Montréal has shed light on the mechanisms that underlie a rare genetic condition by creating the first cellular model of the disease. The study's findings were ...
Jan 22, 2020
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Recent advances in the development of cancer therapies have increased long-term survival and prognosis. However, the increased burden and prevalence of harmful side effects, including cardiomyopathy, have emerged alongside ...
Apr 10, 2019
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Fresh discoveries about a rare genetic disorder that affects mainly boys may inform the development of therapies to treat the condition.
Dec 12, 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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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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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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A clinician who treated Charlie Gard, the terminally-ill British baby who died last month, said Saturday his short life became a soap opera fuelled by President Donald Trump and the pope.
Aug 5, 2017
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