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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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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Researchers at Beam Therapeutics have developed a redesigned base editor that shows considerable promise in directly repairing the single-base mutation that causes sickle-cell disease (SCD). Many strategies are being pursued ...
Apr 20, 2021
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The potassium channel KCNQ1 plays a critical role in the cardiac action potential—the electrical activity underlying heart muscle contraction. Inherited mutations resulting in loss of channel function or gain of function ...
Apr 16, 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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Just because you are exposed to a pathogen does not mean you will become sick. Increasingly, scientists have shown that genetics play a central role in determining whether the pathogens that cause a wide range of disease—including ...
Mar 10, 2021
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