In 2017, Baylor Genetics introduced the first clinical non-invasive prenatal multigene sequencing screen, PreSeek, to the commercial market. The Baylor College of Medicine and Baylor Genetics team that developed the technology ...
Jan 29, 2019
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Mutations in a gene known as interferon regulatory factor 6 (IRF6) that cause cleft lip and palate also are implicated in neural tube defects such as spina bifida, suggests research by an international study team published ...
Jan 25, 2019
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A drug treatment, already approved for use in patients, could offer new hope for some patients with brain bleeding and strokes.
Nov 27, 2018
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Researchers have identified a novel missense mutation in tyrosyl-tRNA synthetase (YARS c.499C>A, p.Pro167Thr) that causes a severe recessive disorder in affected individuals. The study, led by clinicians, researchers and ...
Nov 7, 2018
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The University of Toronto's David McMillen and his research team are creating a new life form to ward off disease – a bespoke, gut-dwelling microbe engineered to release drugs when needed.
Jun 12, 2018
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For more than 20 years, much of the leading research on Alzheimer's disease has been guided by the "amyloid hypothesis."
Jun 6, 2018
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Glaucoma—the leading cause of vision loss worldwide—includes a heterogeneous group of disorders. Primary open-angle glaucoma (POAG) and exfoliation glaucoma (XFG) are linked to decreased outflow of aqueous humor, which ...
Apr 11, 2018
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Stem cell researchers at UConn Health have reversed Prader-Willi syndrome in brain cells growing in the lab, findings they recently published in the Human Molecular Genetics.
Jan 25, 2018
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Parkinson's disease (PD) is the second most common neurodegenerative disorder, with up to 10 million people affected worldwide. PD is characterized by progressive increase in movement disability and impaired balance, which ...
Jan 25, 2018
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A new 'checkpoint' model which can be used to identify potential treatments for genetic disorders such as cystic fibrosis and Duchenne muscular dystrophy (DMD) has been proposed by a team of Bradford scientists.
Dec 18, 2017
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