Researchers have identified a new gene that may increase a person's risk of developing ALS (Amyotrophic Lateral Sclerosis), according to a new study published in the June 16, 2021, online issue of Neurology, the medical journal ...
Jun 16, 2021
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A rare mutation that causes Parkinson's disease-like symptoms interrupts the flow of dopamine in the brain, suggests a study in fruit flies published today in eLife.
May 25, 2021
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According to some estimates, hundreds of genes may be associated with autism spectrum disorders (ASD), but it has been difficult to determine which mutations are truly involved in the disease and which are incidental. New ...
May 19, 2021
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Apic Bio, a gene therapy company developing treatment options for patients with rare genetic diseases and co-founded by UMass Medical School's Robert H. Brown Jr., DPhil, MD, announced that the FDA has cleared its investigational ...
Apr 22, 2021
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In Norway, all newborn children are tested for 25 rare genetic diseases through the Newborn Screening program, and the most common of these is phenylketonuria (abbreviated to PKU), known as Folling Disease.
Apr 7, 2021
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A novel mechanism has been identified that might explain why a rare mutation is associated with familial Alzheimer's disease in a new study by investigators at the University of Chicago. The paper, published on April 2 in ...
Apr 2, 2021
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Leigh syndrome is the most severe mitochondrial disease in children. It causes severe muscle weakness, movement defects, and intellectual disabilities. It usually leads to death within the first years of life. No causative ...
Mar 26, 2021
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A study of young men with COVID-19 has revealed a genetic variant linked to disease severity.
Mar 23, 2021
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A rare disease first identified in 2020 is much more common than first thought, say researchers at the University of Leeds investigating its origins.
Mar 11, 2021
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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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