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CSHL scientists confirm genetic distinction between heritable and sporadic cases of autism
03-19-2007 · EurekAlert!New research, led by Cold Spring Harbor Laboratory scientists Jonathan Sebat, Lakshmi Muthuswamy and Michael Wigler, has found a distinction between heritable and sporadic forms of autism.
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- Physician-scientists seek solutions to reproductive problems related to chromosomal variations
12-19-2007 · EurekAlert!
Approximately one in every 500 to 650 baby boys is born with an extra X chromosome, a variation in their genetic code that until a few years ago was thought to result in infertility in all cases. However, this is no longer the case. A recent conference hosted by NewYork-Presbyterian Hospital/Weill Cornell Medical Center and advocacy organization KS&A focused on raising awareness of the condition and the recent availability of treatments for both children and adults.
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- Tiny, spontaneous gene mutations may boost autism risk
03-15-2007 · EurekAlert!
Tiny gene mutations, each individually rare, pose more risk for autism than had been previously thought. These spontaneous deletions and duplications of genetic material were found to be ten times more prevalent in sporadic cases of autism spectrum disorders than in healthy control subjects -- but only twice as prevalent in autism cases from families with more than one affected member. The results implicate the anomalies as primary, rather than just contributory, causes of the disorder.
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- Yes, Virginia, some snowflakes can look the same!
12-13-2006 · EurekAlert!
Snowflakes, one of the most recognizable and endearing symbols of winter, reveal some fascinating lessons about chemistry and science in general, according to a scientist at Ritsumeikan University in Japan. In an interview with the American Chemical Society, the researcher discusses how snowflakes form, why scientists are interested in studying them, and explains why the adage that 'no two snowflakes are alike' may not ring true in all cases.
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- Genetic background to severe urinary tract infections
09-04-2007 · EurekAlert!
If you sit on cold boulders or forget to wear your woollen pants, you can develop a urinary tract infection. However, these diseases are more complicated than this, and in some cases they have a genetic background. Scientists at Lund University in Sweden have found a gene that appears to lie behind many of the most severe urinary tract infections. The study is published September 5 in the online, open-access journal PLoS ONE.
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- Combination of early detection, timely treatment hold promise for autism
04-02-2007 · EurekAlert!
Emerging genetic research may help scientists recognize children with autism at a younger and potentially treatable age, according to an editorial in the April issue of Archives of Pediatrics & Adolescent Medicine, one of the JAMA/Archives journals. The issue is devoted to studies of autism spectrum disorders.
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- Researchers reveal structure of protein altered in autism
06-12-2007 · EurekAlert!
As a result of mapping the structure of the protein complex implicated in autism spectrum disorders, a research team led by scientists at the University of California, San Diego, Skaggs School of Pharmacy and Pharmaceutical Sciences has discovered how particular genetic mutations affect this complex and contribute to the developmental abnormalities found in children with autism.
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- Genome scan for familial autism finds two new genetic links
02-18-2007 · EurekAlert!
The first results from a scan of the world's largest collection of DNA samples from families affected by autism point to two new genetic links that may predispose people to the brain disorder. The five-year study was led by the Autism Genome Project, an international consortium involving scientists from 50 institutions in 19 countries.
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- Williams Syndrome, The Brain And Music
10-05-2006 · ScienceDaily
Children with Williams syndrome, a rare genetic disorder, just love music and will spend hours listening to or making music. A study by a multi-institutional collaboration of scientists, published in a forthcoming issue of NeuroImage, identified structural abnormalities in a certain brain area of people afflicted with Williams syndrome. This might explain their heightened interest in music and, in some cases, savant-like musical skill.
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- Scientists find new genes for Crohn's disease
04-15-2007 · EurekAlert!
A consortium of US and Canadian researchers is reporting in today's online issue of Nature Genetics that they have discovered several more genetic variations that are strongly linked to an increased risk for the disease. The discovery of these Crohn's disease-associated genetic variants has identified several key biological pathways that will be the focus of further research to understand how the debilitating inflammatory process is initiated and maintained in many cases of the disease.
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- Results of largest ever genome scan for autism out
02-19-2007 · EurekAlert!
The genomes of the largest collection of families with multiple cases of autism ever assembled have been scanned and the preliminary results published in Nature Genetics (February 18, 2007). They provide new insights into the genetic basis of autism.
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