Research from experts at Michigan Medicine, the Children's Hospital of Philadelphia and Penn Medicine is breaking ground on new ways of treating blood disorders, such as sickle cell anemia, through gene therapy. The study ...
Aug 10, 2023
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Through next-generation sequencing, investigators have identified a mutation in the TMCO3 gene in two sisters with short stature.
Aug 9, 2023
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A study presented today at the Society of NeuroInterventional Surgery's (SNIS) 20th Annual Meeting indicated that it may be possible to use a less invasive technique to identify the gene mutations responsible for some arteriovenous ...
Aug 2, 2023
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Yulan Xiong, assistant professor of neuroscience at UConn Health, and her team have discovered that a regulator compound holds the potential to treat Parkinson's disease.
Aug 1, 2023
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Fragile X syndrome is a genetic disorder caused by a mutation in a gene that lies at the tip of the X chromosome. It is linked to autism spectrum disorders. People with fragile X experience a range of symptoms that include ...
Jul 27, 2023
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While cancers often originate from mutations and other alterations of cells' DNA, researchers in the Bernstein Laboratory at Dana-Farber and the Broad Institute of MIT and Harvard have found that gliomas—incurable brain ...
Jul 25, 2023
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Dilated cardiomyopathy (DCM) is one of the most common causes of heart failure, affecting nearly 1 in 400 people worldwide. About 40%–50% of DCM cases are estimated to have an identifiable genetic cause, which explains ...
Jul 24, 2023
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Combining two types of heart scan techniques could help doctors to detect the deadly heart condition hypertrophic cardiomyopathy (HCM) before symptoms and signs on conventional tests appear, according to a new study led by ...
Jul 19, 2023
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A group of 20 patients with undiagnosed neurodevelopmental disorders ranging from severe to mild has now received a genetic diagnosis thanks to an international team of researchers at the GREGoR Research Center at Baylor ...
Jul 18, 2023
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A group of Ludwig Maximilian University scientists led by Eckhard Wolf has developed a porcine DMD model with a mutation that mimics the hallmarks of the human disease but develops them in an accelerated mode. The study is ...
Jul 13, 2023
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