Weill Cornell Medicine researchers are using machine learning, a form of artificial intelligence, to shed light on genetic mutations associated with spina bifida. In this birth defect, the neural tube that forms the spinal ...
Dec 20, 2021
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Children's National Hospital experts developed a new pre-clinical gene therapy for a rare disorder, known as limb-girdle muscular dystrophy (LGMD) 2B, that addresses the primary cellular deficit associated with this disease. ...
Jan 4, 2022
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A link has been discovered between a common gene defect and eczema, nasal blockage and wheeze among babies as young as six months, according to a new study at Brighton and Sussex Medical School (BSMS). The research ...
Apr 28, 2020
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UNC researchers have discovered how the genetic defect underlying one of the most common congenital heart diseases keeps the critical organ from developing properly. According to the new research, mutations in a gene called ...
Feb 6, 2012
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New research has found no increased risk of congenital malformations associated with treatment with radiotherapy or chemotherapy in children of fathers with testicular cancer. The study, by Yahia Al-Jebari of Lund University, ...
Jun 4, 2019
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A research team, led by John Guy, M.D., professor of ophthalmology at Bascom Palmer Eye Institute of the University of Miami Miller School of Medicine, has pioneered a novel technological treatment for Leber Hereditary Optic ...
Apr 23, 2012
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Researchers are continuing their efforts in an attempt to counter the consequences of the genetic defect that causes Progeria. Until now, no model had been able to accurately imitate the effects of the disease in humans. ...
Oct 27, 2011
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Scientists at the University of Exeter have identified a way to "rescue" cells that have genetically mutated, paving the way to a possible new treatment for rare terminal childhood illness such as mitochondrial disease.
Dec 18, 2020
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Researchers at the University of Oslo and Oslo University Hospital have found the genetic cause of a previously undescribed disease. With this, they have solved an over ten year old medical conundrum.
Sep 1, 2015
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Huntington's disease—a hereditary and fatal genetic disorder—has long been considered a neuronal disease due to the permanent loss of medium spiny motor neurons, the death of which over time is responsible for the clinical ...
Aug 30, 2022
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