Researchers determine genetic cause of Timothy syndrome
...researchers have pinpointed the genetic cause of a devastating but rare childhood disorder, called Timothy syndrome, which underlies a form of severe cardiac arrhythmia. The research shows that children who have the syndrome develop spontaneous genetic mutations that interfere with calcium channels that regulat......University. The work could provide insights on two devastating inherited diseases. In healthy cells, mitochondria (tiny energy substations that churn out each cell's power supply) continually fuse together and split in two. When mitochondrial fusion goes awry, cells are targeted for programmed cell death, or ap...Targeted therapy knocks out pediatric brain cancer in mice
...ecular interventions could spare children from the devastating effects of surgery, toxic chemotherapy, and exposure to high doses of radiation," offers Dr. Curran. ...Viral suspect for amphibian decline traced to human spread through bait
...ecular Ecology finds that the wild incidences of a devastating iridovirus in Arizona and Colorado are all very similar genetically, indicating a recently emerged or introduced strain. The strain also closely matches viruses isolated from imported salamanders found in bait shops, indicating a possible source for ...Scientists fear new Ebola outbreak may explain sudden gorilla disappearance
...attention, since another Ebola outbreak would have devastating effects not only for wildlife, but for my neighbors who call the area home." Fewer than 100,000 western lowland gorillas remain on Earth. A study published in the journal Nature last year suggested that when an ebola outbreak affects a given area, mo...New genetic research demonstrates possible cause of inherited form of Parkinson's disease
...ene initiates a cascade of events that causes this devastating neurological disease. "This discovery could aid in the development of new, targeted treatments to slow or stop the disease progression," said David Sulzer, Ph.D., professor of neurology and psychiatry at Columbia University College of Physicians and...University of Pittsburgh receives $10 million grant for head and neck cancer
...atient with disabling side effects that can have a devastating impact on quality of life. This grant will enable us to enhance the quality of life for head and neck cancer patients and greatly improve their prognoses through the collaborative efforts of our researchers in the laboratory and clinic." The grant ...New clues to hereditary blinding disease found
...oint to significant advances for research in other devastating illnesses as well." The principles of the protein rhodopsin may be extended to its relatives: G-protein coupled receptors that mediate numerous functions in the body including sight, taste, smell and many important hormonal responses in the body. "R...Stem cell research targets cerebral palsy
...s effects run the gamut, from barely detectable to devastating loss of motor control. The causes are diverse as well, including everything from oxygen deprivation during birth to prenatal infections....Joslin Diabetes Center launches research section on developmental and stem cell biology
...ve that stem cells may someday help to prevent the devastating complications of diabetes, which include heart disease, stroke, peripheral vascular disease, diabetic retinopathy, kidney disease, nerve damage and birth defects. Many of these complications involve damage to large or small blood vessels. Stem cells ......ulcer on stories of suspected spider bites causing devastating necrotic fasciitis (flesh-eating skin disease)." An accompanying commentary (p 484) by Richard Vetter (University of California, USA) agrees that the medical community has helped weave a web of misinformation about the alleged dangers of spiders....New discovery may help transplants survive
...neal transplants fail, and their failure can cause devastating vision loss. If transplants are placed in eyes suffering from inflammation (caused by a full-blown immune response to the original injury or disease), rejection rates go well over 50 percent, regardless of the therapy employed. "We are trying to unde...New study to investigate demise of coral reef ecosystems
...a project which will explore how global warming is devastating one of the world's most diverse ecosystems. One sixth of the world's coral reefs died due to bleaching in 1998, and the situation is getting worse. Bleaching occurs when tropical seas heat up above there normal maximums, killing the corals. These e...Location of potential familial lung cancer gene discovered
...ponsible for lung cancer will do the same for this devastating disease," said co-lead author Joan Bailey-Wilson, Ph.D., NHGRI. Lung cancer is by far the leading cause of cancer death in the United States (over 160,000 deaths expected in 2004), and the five-year survival rate is only 15 percent. Such a high mort...Pump failure implicated in a form of dystonia
...anes of neurons have been implicated in a rare but devastating form of dystonia. Patricia de Carvalho Aguiar and her colleagues have pinpointed for the first time genetic mutations that underlie the disorder known as rapid-onset dystonia parkinsonism. The disorder usually strikes adolescents or young adults, sud...West Nile takes its toll on rare bird
...but we do know that the West Nile virus could have devastating consequences for small populations," said Aldridge, a co-author on a research paper just published in "Ecology Letters." Aldridge was part of a team that monitored radio-marked female sage-grouse from March 2003 to September 2004 in five si......ience, may lead to new strategies for blocking the devastating inflammation that lies at the heart of autoimmune disorders such as multiple sclerosis, arthritis, lupus as well as some cancers. When the cells of the body are confronted with toxic chemicals or disease-causing organisms, such as viruses and ...Genetic model for devastating form of paraplegia suggests new treatments
...thin a key set of nerve cells is the cause of this devastating disability.The study, which is published in the July 13 issue of the journal Current Biology , provides a provocative new insight into the molecular basis of the disease called hereditary spastic paraplegia (HSP) and suggests a new way to treat the ...New model explains why costly insect 'outbreaks' hard to predict
...otably the gypsy moth, one of North America's most devastating forest pests produce periodic population surges, known as outbreaks, only to crash down to low levels. These outbreaks can devastate huge areas of forest, but they occur at long, irregular intervals and so are hard to predict. In the 15 July 2004 ...A genetic model for hereditary spastic paraplegia (HSP) disease
Hereditary spastic paraplegia (HSP) is a devastating motor disorder that relegates patients to walkers and, in more severe cases, wheelchairs. In work reported this week, researchers have taken our understanding of HSP to a new level with the development of an animal model for the disease. The findings...