Posts tagged: rare
Rare Genetic Immune Disease XLP2 Examined
Researchers have taken an important step in understanding a rare genetic immune disorder which affects male children. Using biochemical analyses, the team was able to map how the XIAP protein activates a vital component of the immune defense system, specifically the component that fights bacterial infections in the gastro-intestinal system. ...
Rare neurons discovered in monkey brains
(Max-Planck-Gesellschaft) Max Planck scientists discover brain cells in monkeys that may be linked to self-awareness and empathy in humans.
Serious But Rare Genetic Immune Disorder Studied By Scientists
Defects in the gene that encodes the XIAP protein result in a serious immune malfunction. Scientists used biochemical analyses to map the protein's ability to activate vital components of the immune system. Their results have recently been published in Molecular Cell, a journal of international scientific repute...
Rare DNA Variations May Be Responsible For Differences In Susceptibily To Heart, Lung And Other Disorders
One-letter switches in the DNA code occur much more frequently in human genomes than anticipated, but are often only found in one or a few individuals. The abundance of rare variations across the human genome is consistent with the population explosion of the past few thousand years, medical geneticists and ...
Rare DNA variations may be responsible for differences in susceptibility to common disorders
One-letter switches in the DNA code occur much more frequently in human genomes than anticipated, but are often only found in one or a few individuals. The abundance of rare variations across the human genome is consistent with the population explosion of the past few thousand years, medical geneticists and ...
Gene Therapy Helps Children With Rare, Incurable Brain Disease
Using gene transfer techniques pioneered by University of Florida faculty, Taiwanese doctors have restored some movement in four children bedridden with a rare, life-threatening neurological disease. The first-in-humans achievement may also be helpful for more common diseases such as Parkinson's that involve nerve cell damage caused by lack of a ...
Abundance of rare DNA changes following population explosion may hold clues to common diseases
(University of Washington) Scientists have taken a first step toward understanding how rare genetic differences among people contribute to leading chronic illnesses. One-letter DNA code changes occur frequently in human genomes, but each variant is usually found in only a few individuals. This phenomenon is consistent with the population ...
‘Rare’ genetic variants are surprisingly common, life scientists report
(University of California - Los Angeles) A large survey of human genetic variation, published today in the online version of the journal Science, shows that rare genetic variants are not so rare after all, and offers insights into human diseases. A team of scientists studied 202 genes in 14,002 people ...
Rare elephant found dead in Indonesia
A critically-endangered Sumatran elephant has been found dead in Indonesia's Aceh province, an official said Wednesday, the second death from suspected poisoning within a month.
Children with rare, incurable brain disease improve after gene therapy
(University of Florida) Taiwanese doctors have restored some movement in four children bedridden with a rare, life-threatening neurological disease using gene transfer techniques pioneered by University of Florida faculty. The first-in-humans achievement may also be helpful for more common diseases such as Parkinson's.
Genetic cause of rare genetic disorder, Hamamy syndrome
Scientists at A*STAR's Institute of Medical Biology (IMB), in collaboration with doctors and scientists in Jordan, Turkey, Switzerland and USA, have identified the genetic cause of a birth defect known as Hamamy syndrome .