News tagged with rare diseases
New test spots early signs of mucopolysaccharidoses -- inherited metabolic disorders
A team of scientists, led by researchers at the University of California, San Diego School of Medicine and Zacharon Pharmaceuticals, have developed a simple, reliable test for identifying biomarkers for mucopolysaccharidoses ...
Jan 08, 2012 |
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Study of stem cell diseases advanced by new technique
A rare genetic disease called dyskeratosis congenita, caused by the rapid shortening of telomeres (protective caps on the ends of chromosomes), can be mimicked through the study of undifferentiated induced pluripotent stem ...
May 23, 2011 |
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Push to spur more drugs for deadly rare diseases
(AP) -- Every other week, 7-year-old twins Addison and Cassidy Hempel have an experimental medicine injected into their spines in hopes of battling a rare, fatal disease.
Medicine & Health / Medications
Apr 25, 2011 |
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Researchers looking at a rare disease make breakthrough that could benefit everyone
By working with Canadians of French ancestry who suffer a rare genetic disease, researchers have discovered how three genes contribute to abnormal growth, making a breakthrough that will improve our understanding of many ...
Mar 01, 2011 |
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Science Translational Medicine: 'Creating Hope Act' incentivizes pediatric drug R&D
Recent legislative and regulatory actions make great strides toward establishing much needed incentives for pharmaceutical companies and others to develop and test more medications for pediatric rare diseases, including pediatric ...
Jan 19, 2011 |
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Skin provides Australia's first adult stem cells for rare genetic disease
(PhysOrg.com) -- Scientists have developed Australia’s first adult induced pluripotent stem cell lines using skin biopsies from patients with the rare genetic disease Friedreich Ataxia (FA).
Jan 13, 2011 |
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US scientists sound alarm over animal research
Scientists who use monkeys, mice and dogs for research on human diseases fear that the US government is restructuring the massive National Institutes of Health in a way that could slash their funding.
Jan 06, 2011 |
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Because of the canine genome, human genetic diseases better understood
A dog is mankind's best friend: the old saying has once again been borne out through a medical discovery concerning the genetic origins of primary ciliary dyskinesia (PCD). In using dogs as a research model in the framework ...
Dec 10, 2010 |
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New study raises questions about genetic testing of newborns
Mandatory genetic screening of newborns for rare diseases is creating unexpected upheaval for families whose infants test positive for risk factors but show no immediate signs of the diseases, a new UCLA study warns.
Dec 07, 2010 |
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Researchers identify gene tied to extremely rare disorder that causes inflammation and loss of fat
UT Southwestern Medical Center researchers have identified a gene responsible for a rare disease that results in severe joint stiffness, muscle loss, anemia and panniculitis-induced lipodystrophy, or JMP syndrome.
Dec 01, 2010 |
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Rare disease reveals new path for creating stem cells
(PhysOrg.com) -- As debilitating as disease can be, sometimes it acts as a teacher. Researchers at Harvard Medical School and the Harvard School of Dental Medicine have found that by mimicking a rare genetic ...
Medicine & Health / Medical research
Nov 21, 2010 |
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Experts urge UK prime minister to act on 'massive' rises in the prices of drugs for rare diseases
An open letter from 20 consultants and a patient group published in the British Medical Journal today, calls on the prime minister to take action over a legal loophole that allows drug companies to make easy profits by licensing ...
Medicine & Health / Medications
Nov 17, 2010 |
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FDA approves kidney cancer drug to treat brain tumors
The United States has approved a drug normally used for advanced kidney cancer to treat brain tumors caused by a rare genetic disease, US officials and the Swiss manufacturer said Monday.
Medicine & Health / Medications
Nov 01, 2010 |
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Sanofi-Aventis launches Genzyme takeover battle
(AP) -- France's Sanofi-Aventis on Monday launched an $18.5 billion hostile takeover attempt for Genzyme Corp., escalating the battle after management of the U.S. biotech company twice rejected its offer.
Oct 04, 2010 |
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Discovered gene causes Kabuki syndrome
Using a new, rapid and less expensive DNA sequencing strategy, scientists have discovered genetic alterations that account for most cases of Kabuki syndrome, a rare disorder that causes multiple birth defects and mental retardation. ...
Aug 15, 2010 |
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