"Childhood" and "dementia" are two words we wish we didn't have to use together. But sadly, around 1,400 Australian children and young people live with currently untreatable childhood dementia.
Apr 26, 2024
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Scientists at St. Jude Children's Research Hospital have shown that a class of drugs they pioneered has the potential to treat a rare metabolic disorder called propionic acidemia. The findings were published today in Science ...
Sep 16, 2021
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Researchers at UPMC Children's Hospital of Pittsburgh found that infusing umbilical cord blood—a readily available source of stem cells—safely and effectively treated 44 children born with various non-cancerous genetic ...
Jul 14, 2020
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An international team of scientists from Switzerland Spain, has studied the genetic basis of aromatase deficiency, a rare metabolic disorder that prevents the production of estrogens in humans, according to new research in ...
Jun 30, 2020
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The nutritional supplement has dramatically improved the lives of other children with the rare metabolic disorder.
Jun 4, 2020
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A new study from BC Children's Hospital, the University of British Columbia (UBC) and an international team of researchers published in the New England Journal of Medicine is the first to identify a rarely-seen type of DNA ...
Apr 15, 2019
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U.S. health officials on Tuesday approved the nation's first gene therapy for an inherited disease, a treatment that improves the sight of patients with a rare form of blindness. It marks another major advance for the emerging ...
Dec 19, 2017
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A newly discovered biomarker associated with a rare metabolic disorder may facilitate better diagnosis and identification of new drugs for clinical trials for the disease, according to researchers in the Perelman School of ...
Aug 7, 2017
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Horizon Pharma will spend about $800 million to buy Raptor Pharmaceutical and expand its portfolio of rare disease treatments, a growing area of focus for drugmakers.
Sep 12, 2016
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Researchers are closer to finding a better way to treat children with a rare metabolic disorder called MPS I. It is caused by a deficiency of the key enzyme IDUA needed to break down complex sugars in cells. MPS I eventually ...
Jul 28, 2016
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