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Latest Rare diseases Stories

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,...

2013-09-30 23:18:18

The Rare Disease Panel will present on October 7, 2013 at 9:45 a.m. Bethesda, MD (PRWEB) September 30, 2013 WHAT: Thirty years after the adoption of the Orphan Drug Act, patients with rare diseases still face incredible obstacles. At the U.S. Conference on Rare Diseases and Orphan Products, with its theme of “The New Era in Health Care,” patients and patient advocates will discuss: Getting an accurate diagnosis Supporting research for and the development of treatments Assuring...

2013-09-27 23:03:52

Everolimus Drug Study with TSC Patients to Measure Impact on Brain New York, NY (PRWEB) September 27, 2013 Bcureful® presented a check in the amount of $15,000.00 to Dr. Orrin Devinsky, Director of the Comprehensive Epilepsy Center at NYU Langone Medical Center, for his upcoming everolimus research project. Bcureful Board members Lori Nerheim of Chicago and Laurie Marshall of New York City presented the check to Dr. Devinsky. “Now is one of the most exciting times in TSC...


Word of the Day
omphalos
  • The navel or umbilicus.
  • In Greek archaeology: A central boss, as on a shield, a bowl, etc.
  • A sacred stone in the temple of Apollo at Delphi, believed by the Greeks to mark the 'navel' or exact center-point of the earth.
'Omphalos' comes from the ancient Greek.
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