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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Researchers at Washington University School of Medicine in St. Louis are investigating whether a drug approved by the Food and Drug Administration (FDA) to treat rare diseases of an overactive immune system could help critically ...
Aug 17, 2020
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Ultra-rapid genetic testing can transform the diagnosis and treatment of critically ill children with suspected genetic conditions, according to an Australian Genomics study.
Jun 25, 2020
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An arthritis drug is to be trialed as a treatment for children with a fatal metabolic disorder which causes neurological deterioration thanks to University of Manchester researchers.
Jun 24, 2020
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Most children with rare genetic diseases spend years undergoing medical tests and waiting for a diagnosis—a long, exhausting process that takes its toll on children and their families. Almost half of these children never ...
Jun 4, 2020
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A new study shows that people with a rare genetic disease that causes bleeding in the brain have gut microbiomes distinct from those without the disease. Moreover, it is the molecules produced by this bacterial imbalance ...
May 27, 2020
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A Texas A&M AgriLife Research team has good news for patients with copper-deficiency disorders, especially young children diagnosed with Menkes disease.
May 8, 2020
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All biological cells are bounded by a lipid bilayer known as the plasma membrane. In addition, the cells of higher organisms contain specialized intracellular membrane compartments, which interact with each other and with ...
Feb 27, 2020
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You may not know, however, that being diagnosed with a rare disease means you are part of a community of up to two million Australians with one of these conditions. And more than 300 million people globally.
Feb 26, 2020
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