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Latest Single-nucleotide polymorphism Stories

2012-11-07 11:49:14

Scientists have adopted a novel laboratory approach for determining the effect of genetic variation on the efficiency of the biological process that translates a gene's DNA sequence into a protein, such as hemoglobin, according to a presentation, Nov. 6, at the American Society of Human Genetics 2012 meeting in San Francisco. In the 0.1% of the DNA that differs between any two individuals, scientists search for the biological mechanisms underlying human genetic differences, including...

Genome Breakthrough Surpasses All DNA Barriers
2012-10-31 16:20:43

Lee Rannals for redOrbit.com - Your Universe Online A multinational team of scientists reports that they have successfully sequenced 1,092 human genomes from individuals across the globe. Their new study is the first to break the "1,000 genomes barrier." The researchers say the feat is a collegial effort to equip biologists and physicians with information that can be used to understand the normal range of human genetic variants so a patient's diseased genome can be interpreted in a...

2012-10-01 16:29:51

Vibration-induced white finger disease (VWF) is caused by continued use of vibrating hand held machinery (high frequency vibration >50 Hz), and affects tens of thousands of people. New research published in BioMed Central's open access journal Clinical Epigenetics finds that people with a genetic polymorphism (A2191G) in sirtuin1 (SIRT1), a protein involved in the regulation of endothelial NOS (eNOS), are more likely to suffer from vibration-induced white finger disease. VWF (also known...

2012-09-12 13:15:45

In a recent study, investigators at Boston University Schools of Medicine (BUSM) and Public Health (BUSPH) identified a gene linking age-related cataracts and Alzheimer's disease. The findings, published online in PLoS ONE, contribute to the growing body of evidence showing that these two diseases, both associated with increasing age, may share common etiologic factors. Gyungah Jun, PhD, from the departments of medicine, ophthalmology and biostatistics at BUSM and BUSPH, served as the...

2012-09-10 11:07:14

BE is a condition that predisposes people to develop one of the world's commonest cancers Genetic variations that are linked with the onset of Barrett's oesophagus (BE), a pre-cancerous condition of the lower end of the gullet, have been identified for the first time. The discovery of variations in regions on two chromosomes makes it possible to develop screening tests for people at high risk of developing the disease. Although it's been thought for some time that there may be genetic...

2012-09-04 23:22:57

Discovery will lead to new screening protocol to better match patients and donors A team of scientists led by a bone marrow transplant researcher at Fred Hutchinson Cancer Research Center has shed new light on why most bone marrow transplant patients who receive tissue-matched cells from unrelated donors still suffer acute graft-versus-host disease (GVHD). The answer appears to lie in the discovery of previously undetected genetic differences in the DNA of patients and unrelated marrow...

Glioma Risk Increased With Genomic Variant
2012-08-27 09:11:49

Brett Smith for redOrbit.com - Your Universe Online Of the 6.4 billion nucleotides in the human genome, a single change from adenine to guanine at a specific location recently identified by geneticists can increase the odds of certain kinds of brain tumors by six times, according to the scientists´ report in the latest edition of the journal Nature Genetics. The results produced by researchers at the University of California at San Francisco (UCSF) and the Mayo Clinic could result...

2012-08-14 11:57:24

Two papers that will appear in the journal Molecular Psychiatry, both receiving advance online release, may help identify gene variants that contribute to the risks of developing obsessive-compulsive disorder (OCD) or Tourette syndrome (TS). Both multi-institutional studies were led by Massachusetts General Hospital (MGH) investigators, and both are the first genome-wide association studies (GWAS) in the largest groups of individuals affected by the conditions. "Previous studies of these...

2012-07-03 10:22:20

High risk and better outcome for glioma wrapped up in rare gene variant Researchers at Moffitt Cancer Center working with colleagues at three other institutions have validated a link between a rare genetic variant and the risk of glioma, the most common and lethal type of brain tumor. The validation study also uncovered an association between the same rare genetic variant and improved rates of survival for patients with glioma. The study, the first to confirm a rare susceptibility...


Word of the Day
snash
  • To talk saucily.
  • Insolent, opprobrious language; impertinent abuse.
This word is Scots in origin and probably imitative.