Scientists at the National Eye Institute (NEI) have developed a promising gene therapy strategy for a rare disease that causes severe vision loss in childhood. A form of Leber congenital amaurosis, the disease is caused by ...
Jan 28, 2021
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Novel abnormalities in the FGFR gene, called FGFR fusions, were identified in a spectrum of cancers, and preliminary results with cancer cells harboring FGFR fusions suggested that some patients with these cancers may benefit ...
Jun 7, 2013
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Scientists led by Washington University School of Medicine in St. Louis have identified the first gene directly linked to the most common form of psoriasis, a chronic skin condition.
Apr 19, 2012
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A University of Adelaide-led team of scientists has suggested a potential link between iron in our cells and the rare gene mutations that cause Alzheimer's disease, which could provide new avenues for future research.
Aug 14, 2018
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Researchers have defined the gene responsible for a rare developmental disorder in children. The team showed that rare variation in a gene involved in brain development causes the disorder. This is the first time that this ...
Nov 29, 2012
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A new breast cancer risk gene has been discovered which explains the early-onset breast cancer in some multiple-case breast cancer families.
Oct 24, 2013
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Scientists at the National Eye Institute (NEI) have developed a zebrafish model of NEDBEH—a rare genetic disorder that can cause coloboma, where parts of the eye are missing due to developmental defects. The model provides ...
Jan 12, 2023
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The genetics of autism is complex and possibly influenced by mutations with very large effects. EU genomics research has found more candidate genes that increase susceptibility to the condition.
Sep 14, 2012
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A rare but potentially debilitating brain disorder finally has a definitive cause, thanks to research teams working on opposite sides of the globe.
Sep 15, 2022
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Cancer researchers studying genetic mutations that cause leukemia have discovered a connection to the rare disease cherubism, an inherited facial bone disorder in children.
Dec 8, 2011
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