Oregon State University College of Pharmacy scientists have demonstrated in animal models the possibility of using lipid nanoparticles and messenger RNA, the technology underpinning COVID-19 vaccines, to treat blindness associated ...
Jan 11, 2023
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Tailoring the analysis of whole genome sequencing to individual patients could double the diagnostic rates of rare diseases, finds a new study led by UCL researchers.
Nov 7, 2022
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Bluebird Bio Inc.'s gene therapy for a brain-wasting disease received accelerated approval from U.S. regulators, making it the first treatment of its kind for children living with cerebral adrenoleukodystrophy.
Sep 19, 2022
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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 ...
Each year, about 20,000 children are diagnosed with Duchenne muscular dystrophy, a rare genetic condition that causes progressive muscle weakness and other systemic damage.
Feb 18, 2022
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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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New research led by Manchester University NHS Foundation Trust and The University of Manchester could revolutionize the diagnosis and treatment for people with Perrault syndrome, a rare genetic condition resulting in hearing ...
Oct 29, 2021
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A rare genetic condition which causes inflammatory bowel disease can be successfully treated by bone marrow transplant, according to University of Manchester and Manchester University NHS Foundation Trust researchers.
Oct 13, 2020
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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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