Ataxia is a minority disease with genetic origins, known for its neuromuscular alterations due to the selective loss of neurons in the cerebellum, the organ of our nervous systems which controls movement and balance. UB researchers ...
Nov 25, 2020
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The first drug was approved Friday for a rare genetic disorder that stunts growth and causes rapid aging in children, after studies showed it can extend their lives.
Nov 21, 2020
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Maximizing the efficiency of the adeno-associated virus (AAV) platform for gene therapy is the aim of a new pilot project of the National Institutes of Health (NIH). The NIH Platform Vector Gene Therapy (PaVe-GT) project ...
Nov 18, 2020
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Cutaneous angiosarcoma is a rare, highly aggressive skin tumor found primarily on the scalps of older White people, but based on new research from the University of North Carolina School of Medicine and the Lineberger Comprehensive ...
Nov 18, 2020
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With the benefit of pooled resources, the NIH-supported Undiagnosed Diseases Network has demonstrated a novel approach to identifying and diagnosing mystery diseases compared to singular institutions working alone, according ...
Oct 27, 2020
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A five-year-old girl with a rare neurodegenerative disease died in the US while taking part in a gene therapy trial run by French biotechnology company Lysogene, the firm said Thursday.
Oct 15, 2020
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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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Zellweger syndrome is a rare disease which at its mildest form can cause developmental delays in childhood and vision and hearing loss in adulthood. At its most severe, it can mean weak muscle tone, feeding and respiratory ...
Sep 30, 2020
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Researchers at Yale have identified a possible treatment for Duchenne muscular dystrophy (DMD), a rare genetic disease for which there is currently no cure or treatment, by targeting an enzyme that had been considered 'undruggable.' ...
Sep 11, 2020
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The multi-institutional Genotype-Tissue Expression (GTEx) Consortium, in a final-phase initiative co-led by Tuuli Lappalainen, Ph.D., Core Faculty Member at the New York Genome Center, has published its final set of studies. ...
Sep 10, 2020
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