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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Tuberculosis remains a rare disease in the United States, but when it does occur, delays in diagnosing it often exceed recommendations by the World Health Organization, according to a new report by Harvard Medical School ...
Mar 22, 2021
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No one truly knows the experience of suffering a disease better than the patient. Yet until the 1990s, medical research was largely something done on, and for, patients. Led by movements in the US and UK, patients are now ...
Mar 17, 2021
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More than 1,200 people with rare diseases have received a diagnosis thanks to the integration of large-scale genomics into the Stockholm region's healthcare system. This is according to a study from Karolinska Institutet ...
Mar 16, 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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A few weeks ago, a group of Philadelphia scientists reported that they had injected mice with genetic instructions in the form of RNA, prompting the animals' cells to produce customized proteins.
Mar 9, 2021
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Induced pluripotent stem cells (iPSC) are suitable for discovering the genes that underly complex, rare genetic diseases. Scientists from the German Cancer Research Center (DKFZ) and the European Molecular Biology Laboratory ...
Mar 4, 2021
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For more than 30 years, the U.S. government has encouraged drug companies to develop new treatments for rare diseases that affect fewer than 200,000 Americans, and to see if existing drugs might also be effective for these ...
Mar 1, 2021
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New research could pave the way for the treatment of early morbid familial obesity, a disease that affects four to six percent of people suffering from early severe obesity.
Mar 1, 2021
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