News tagged with rare diseases

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

created Nov 21, 2010 | popularity 5 / 5 (11) | comments 0 | with audio podcast

Slobbery kisses from 'man's best friend' aid cancer research

Fido's wet licks might hold more than love. They could provide the DNA keys to findings new treatments for rare cancers and other diseases in both dogs and human patients.

Medicine & Health / Medical research

created Apr 15, 2010 | popularity 5 / 5 (3) | comments 2

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 ...

Medicine & Health / Genetics

created Mar 01, 2011 | popularity 4.7 / 5 (3) | comments 1 | with audio podcast

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. ...

Medicine & Health / Genetics

created Aug 15, 2010 | popularity 4.5 / 5 (2) | comments 0 | with audio podcast

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.

Biology / Other

created Jan 06, 2011 | popularity 3.5 / 5 (2) | comments 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

created May 25, 2009 | popularity 5 / 5 (1) | comments 0

In a rare disorder, a familiar protein disrupts gene function

As reported this week in the open-access journal PLoS Biology, an international team of scientists studying a rare genetic disease has discovered that a bundle of proteins already known to be important for keeping chromo ...

Biology / Biotechnology

created May 27, 2009 | popularity 5 / 5 (1) | comments 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

created Jun 04, 2009 | popularity 2.5 / 5 (2) | comments 0

Tourette's most common in white kids, boys

(AP) -- Tourette syndrome occurs in 3 out of every 1,000 school-aged children, and is more than twice as common in white kids as in blacks or Hispanics, according to the largest U.S. study to estimate how many have the disorder.

Medicine & Health / Diseases, Conditions, Syndromes

created Jun 04, 2009 | popularity 5 / 5 (1) | comments 0

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

created Nov 17, 2010 | popularity 5 / 5 (1) | comments 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.

Medicine & Health / Genetics

created Dec 07, 2010 | popularity 5 / 5 (1) | comments 1

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

created Jul 23, 2009 | popularity 4 / 5 (1) | comments 0