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 |
not rated yet |
1
|
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 |
not rated yet |
0
|
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 |
4.7 / 5 (3) |
1
|
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 |
4.5 / 5 (2) |
0
|
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 |
5 / 5 (11) |
0
|
Nervous system may be culprit in deadly muscle disease
Brain may win out over brawn as the primary cause of breathing problems in children with a severe form of muscular dystrophy known as Pompe disease.
Medicine & Health / Medical research
May 25, 2009 |
5 / 5 (1) |
0
Scientists discover new genetic immune disorder in children
Your immune system plays an important function in your health—it protects you against viruses, bacteria, and other toxins that can cause disease. In autoinflammatory diseases, however, the immune system goes awry, causing ...
Medicine & Health / Medical research
Jun 04, 2009 |
2.5 / 5 (2) |
0
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 |
3.5 / 5 (2) |
0
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 |
not rated yet |
0
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 |
not rated yet |
0
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 |
not rated yet |
0
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 |
not rated yet |
0
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 |
5 / 5 (1) |
1
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 |
not rated yet |
0
Bone from Blood: Circulating Cells Form Bone Outside the Normal Skeleton, Study Finds
(PhysOrg.com) -- The accepted dogma has been that bone-forming cells, derived from the body's connective tissue, are the only cells able to form the skeleton. However, new research shows that specialized cells ...
Medicine & Health / Medical research
Jul 23, 2009 |
4 / 5 (1) |
0
