News tagged with rare genetic disease


Bone from blood: Circulating cells form bone outside the normal skeleton, Penn study finds

Bone from Blood: Circulating Cells Form Bone Outside the Normal Skeleton, Study Finds

Medicine & Health / Research

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

(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 ...


In a rare disorder, a familiar protein disrupts gene function

Biology / Biotechnology

created May 27, 2009 | popularity 5 / 5 (1) | comments 0

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 ...





Search results for rare genetic disease


DNA needs a good editor: Researchers unravel the mysteries of DNA packaging

Biology / Cell & Microbiology

created Dec 14, 2009 | popularity 3 / 5 (4) | comments 0

Imagine a huge spool of film containing thousands of sequences of random scenes. Without a talented editor, a screening would have no meaning.


New inherited eye disease discovered

New inherited eye disease discovered

Medicine & Health / Diseases

created Dec 11, 2009 | popularity 5 / 5 (1) | comments 0

University of Iowa researchers have found the existence of a new, rare inherited retinal disease. Now the search is on to find the genetic cause, which investigators hope will increase understanding of more ...


Family's inherited condition links prion diseases, Alzheimer's

Medicine & Health / Neuroscience

created Dec 09, 2009 | popularity 4.5 / 5 (2) | comments 0

(PhysOrg.com) -- A laboratory connection between Alzheimer's disease and brain-wasting diseases such as the human form of mad cow disease has moved into the clinic for what is believed to be the first time, manifesting itself ...


Researchers restore some function to cells from cystic fibrosis patients

Chemistry / Biochemistry

created Dec 06, 2009 | popularity 5 / 5 (1) | comments 0

In an encouraging new development, a team led by Scripps Research Institute scientists has restored partial function to lung cells collected from patients with cystic fibrosis. While there is still much work to be done before ...


Species down, disease up: Study shows biodiversity loss drives human infections

Biology / Ecology

created Dec 03, 2009 | popularity not rated yet | comments 1

The extinction of plant and animal species can be likened to emptying a museum of its collection, or dumping a cabinet full of potential medicines into the trash, or replacing every local cuisine with McDonald's burgers.


Biology of emergent Salmonella exposed

Biology of emergent Salmonella exposed

Biology / Biotechnology

created Nov 30, 2009 | popularity 5 / 5 (1) | comments 0

Researchers have characterised a new multi drug resistant strain of Salmonella Typhimurium that is causing life-threatening disease in Africa.


Knockouts in human cells point to pathogenic targets

Knockouts in human cells point to pathogenic targets

Biology / Cell & Microbiology

created Nov 26, 2009 | popularity 5 / 5 (1) | comments 0

(PhysOrg.com) -- Whitehead researchers have developed a new approach for genetics in human cells and used this technique to identify specific genes and proteins required for pathogens.


Cells defend themselves from viruses, bacteria with armor of protein errors

Biology / Cell & Microbiology

created Nov 25, 2009 | popularity 5 / 5 (7) | comments 1

When cells are confronted with an invading virus or bacteria or exposed to an irritating chemical, they protect themselves by going off their DNA recipe and inserting the wrong amino acid into new proteins to defend them ...


Gene therapy improves vision

Gene therapy improves vision

Medicine & Health / Research

created Nov 23, 2009 | popularity 4.8 / 5 (4) | comments 0

German scientist Paul Ehrlich found what he coined the "magic bullet" in the early 20th century upon developing the world’s first effective treatment of syphilis.


Genome advances promise personalized medical treatment

Medicine & Health / Genetics

created Nov 18, 2009 | popularity 5 / 5 (2) | comments 1

A whirlwind of activity is under way to apply the findings of the $3 billion Human Genome Project to improve health care in the United States and around the world.



List of search results for rare genetic disease