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Researchers identify fifth gene responsible for Joubert syndrome
06-11-2007 · EurekAlert!An international study by researchers at Seattle Children's Hospital Research Institute, the University of Washington School of Medicine and Radboud University in Nijmegen, the Netherlands, has identified a new genetic cause for Joubert syndrome.
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- University of Pittsburgh cardiologists identify new cardiac arrest gene
10-31-2007 · EurekAlert!
Researchers at the University of Pittsburgh, reporting in Circulation have identified a new gene responsible for a rare, inherited form of sudden cardiac arrest, known as Brugada syndrome. Using positional cloning and gene sequencing on an affected family, lead investigator Barry London and colleagues identified a mutation in a previously unstudied gene, GPD1-L, on chromosome 3p24. This mutation impairs the heart's natural electrical ability to beat in a coordinated manner and maintain a stable rhythm.
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- Researchers discover gene responsible for Restless Legs Syndrome
07-18-2007 · EurekAlert!
An international team of researchers has identified the first gene associated with Restless Legs Syndrome, a common sleep disorder affecting tens of millions of people worldwide. The work was led by scientists at Emory University and deCODE Genetics Inc. in Reykjavik, Iceland.
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- Scientists identify fundamental brain defect, probable drug target in fragile X syndrome
09-17-2007 · EurekAlert!
Scientists have discovered how the gene mutation responsible for fragile X syndrome -- the most common inherited form of mental retardation -- alters the way brain cells communicate. In neurons cultured from laboratory rats, the scientists also were able to reverse the effects of the mutation using a drug targeted to the specific site in an upstream pathway of the defect. The finding could lead to the development of human therapies for this previously untreatable condition.
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- Researchers identify proteins involved in new neurodegenerative syndrome
08-15-2007 · EurekAlert!
The interplay of two proteins that bind to messenger RNA, a molecule that mediates translation of the information encoded in genes into proteins, triggers the appearance of fragile X-associated tremor/ataxia syndrome, a late-life disorder associated with the gene that causes fragile X syndrome in children, said researchers from Baylor College of Medicine in Houston and Emory University School of Medicine in a report that appears today in the journal Neuron.
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- Tracing the pathways of neurofibromatosis
01-18-2007 · EurekAlert!
New research into the mechanisms of neurofibromatosis finds that flaws in the gene Nf1 can lead to a biochemical domino effect that results in tumors. The research, which appears in the January 10 issue of the Journal of Neuroscience, seeks to identify the biochemical pathway responsible for tumors in people with the genetic disorder. Researchers built their case based on evidence from dozens of painstaking experiments on genetically engineered fruit flies.
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- A molecular map for aging in mice
11-28-2007 · EurekAlert!
Researchers at the National Institute of Aging and Stanford University have used gene arrays to identify genes whose activity changes with age in 16 different mouse tissues. The study, published Nov. 30 in PLoS Genetics, uses a newly available database called AGEMAP to document the process of aging in mice at the molecular level. The work describes how aging affects different tissues in mice, and ultimately could help explain why lifespan is limited to just two years in mice.
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- Deadly hypoxic event finally concludes
10-30-2006 · EurekAlert!
The longest, largest and most devastating hypoxic event ever observed in marine waters off the Oregon Coast has finally ended, researchers at Oregon State University say. Monitoring efforts will continue, new technology will be utilized, federal funding will be sought for more work in the area, and work is already under way to identify the amounts of biological damage done by this event, the fifth "dead zone" in five years and, literally, one for the record books.
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- Researchers identify gene associated with severe kidney failure in diabetes
01-09-2007 · EurekAlert!
A research team at Wake Forest University Baptist Medical Center and the University of Heidelberg has proven that a gene protects some people with diabetes from developing severe kidney failure or "end-stage renal disease."
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- Researchers identify gene that plays key role in size of dogs
04-05-2007 · EurekAlert!
An international team of scientists, including researchers from Cornell University, have found a mutation in a single gene that plays a key role in determining body-size differences within and among dog breeds and probably is important in determining the size of humans as well.
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- Fragile X retardation syndrome corrected in mice
12-19-2007 · EurekAlert!
Researchers working with mice have significantly alleviated a wide range of abnormalities due to fragile X syndrome by altering only a single gene, countering the effects of the fragile X mutation. They said their achievement offers the potential for treatment of the disorder, the most common form of inherited mental retardation and a leading identified genetic cause of autism. There is currently no treatment or therapy for fragile X syndrome, whose symptoms include mental retardation, epilepsy and abnormal body growth.
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