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Latest Rare diseases Stories

2013-10-10 10:31:52

From Lesch-Nyhan syndrome to Alzheimer's, Parkinson's and Huntington's diseases A research team, headed by Theodore Friedmann, MD, professor of pediatrics at the University of California, San Diego School of Medicine, says a gene mutation that causes a rare but devastating neurological disorder known as Lesch-Nyhan syndrome appears to offer clues to the developmental and neuronal defects found in other, diverse neurological disorders like Alzheimer's, Parkinson's and Huntington's diseases....

2013-10-04 13:17:31

Studies in fish and cultured human cells provide insight into a human disease Children born with developmental disorders called cohesinopathies can suffer severe consequences, including intellectual disabilities, limb shortening, craniofacial anomalies, and slowed growth. Researchers know which mutations underlie some cohesinopathies, but have developed little understanding of the downstream signals that are disrupted in these conditions. In a study published in the October 3, 2013,...

2013-10-02 23:01:39

Despite federal incentives for drug companies to create treatments for rare diseases, thousands of people are still searching for lifesaving therapies. In many cases, patients and those working on their behalf are taking matters into their own hands. Bethesda, MD (PRWEB) October 02, 2013 Katheryn Elibri, whose 7-year-old daughter has a rare genetic disease known as CDKL5 and has seizures almost daily, helped begin a foundation to fund research for a cure. Other parents—like Lisa Schill,...


Word of the Day
drawcansir
  • A blustering, bullying fellow; a pot-valiant braggart; a bully.
This word is named for Draw-Can-Sir, a character in George Villiers' 17th century play The Rehearsal.
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