Moyamoya is a rare blood vessel condition that has an outsized impact on children, as it is responsible for about 6 percent of pediatric strokes in the United States. Surgical revascularization is the only treatment and is ...
May 21, 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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Rare diseases are sometimes the most difficult to treat because of a lack of research and fewer participants to study.
Apr 16, 2021
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The complex patterns of genetic ancestry uncovered from genomic data in health care systems can provide valuable insights into both genetic and environmental factors underlying many common and rare diseases—insights that ...
Apr 15, 2021
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You might have heard the term "RNA" recently thanks to the development of the Pfizer and Moderna mRNA vaccines, which protect against COVID-19. But the potential medical uses of RNA molecules go much further than vaccines.
Apr 9, 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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As part of an international collaboration, researchers from ELTE Eötvös Loránd University developed a new animal model to study a rare genetic disease that can lead to blindness at the age of 40-50. The new model could ...
Apr 6, 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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Scientists have discovered a new genetic disease, which causes some children's brains to develop abnormally, resulting in delayed intellectual development and often early onset cataracts.
Mar 31, 2021
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Primary sclerosing cholangitis (PSC) is a rare chronic inflammatory disease of the bile ducts and is difficult to treat, since its causes have not yet been adequately researched. Using RNA sequencing, an international research ...
Mar 30, 2021
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