New Open-Access Journal: Human Genomics And Proteomics
A major contribution to the long-term storage and access of data on mutation for genes and disease has been established with the launch of Human Genomics and Proteomics, the first database journal affiliated with a database, FINDbase: the National/Ethnic Mutation Database documenting frequencies of causative mutations leading to inherited disorders in various populations worldwide.
Journal Of Clinical Investigation Online Early Table Of Contents: June 2, 2008
Molecular changes in brain fluid give insight into brain-damaging diseaseSoon after an individual becomes infected with HIV the virus infects cells in the brain and spinal cord (the central nervous system [CNS]). Although this causes no immediate problems, during the late-stages of disease it can cause dementia and encephalitis (acute inflammation of the brain that can cause death).
Personal Genomes May Lead To Personalized Vitamin Supplements
As the cost of sequencing a single human genome drops rapidly, with one company predicting a price of $100 per person in five years, soon the only reason not to look at your "personal genome" will be fear of what bad news lies in your genes.University of California, Berkeley, scientists, however, have found a welcome reason to delve into your genetic heritage: to find the slight genetic flaws that can be fixed with remedies as simple as vitamin or mineral supplements.
Gait In Humans, Brain Development And Genetic Mutation Linked
What are the genes implicated in upright walking of humans? The discovery of four families in which some members only walk on all fours (quadrupedality) may help us understand how humans, unlike other primates, are able to walk for long periods on only two legs, a scientist told the annual conference of the European Society of Human Genetics.
Only Half Of Chromosomal Abnormalities Detected In Prenatal Biochemical Screening
Prenatal biochemical screening tests are widely used to look for chromosomal abnormalities in the fetus which can lead to serious handicap, or even death during gestation or in the first few days after birth. But these tests are only able to detect fewer than half of the total chromosomal abnormalities in the fetus, a scientist told the annual conference of the European Society of Human Genetics.
NIH Researchers Find That Rett Syndrome Gene Is Full Of Surprises
A study funded by the National Institutes of Health (NIH) has transformed scientists' understanding of Rett syndrome, a genetic disorder that causes autistic behavior and other disabling symptoms. Until now, scientists thought that the gene behind Rett syndrome was an "off" switch, or repressor, for other genes.
Ischemic Heart Disease Not Associated With Low HDL Levels From Gene Variation
A paper published in the June 4 issue of JAMA hasshown that patients who have lower levels of high-density lipoprotein(HDL) cholesteroldue to a gene mutation do not have an increased risk of ischemic heartdisease.Low plasma levels of HDL - also known as the "good" cholesterol - havebeen linked to an increased risk of ischemic heart disease (IHD) inseveral previous studies.
Genes May Determine Which Smoking Cessation Treatment Works Best
Kicking the habit may soon become easier for the nation's 45 million smokers. For the first time, researchers have identified patterns of genes that appear to influence how well individuals respond to specific smoking cessation treatments.Scientists at Duke University Medical Center, the National Institute of Drug Abuse, University of Pennsylvania and Brown University scanned the entire human genome in a comprehensive search for genes that could determine treatment outcome.
Greater Awareness Of Genetic Testing For Impaired Fetal Movement Can Save Babies' Lives
New genetic mutations responsible for impaired fetal movement, which leads to a multitude or problems in later life as well as early spontaneous abortion, have been identified by a group of scientists, the annual conference of the European Society of Human Genetics heard.
UNC Medical Geneticist Cautions Against Rushing Into Genetic Testing
Just because scientific advances now allow individuals to learn their genetic make-up doesn't mean they should rush into genetic testing in hopes of making revolutionary improvements to their health, cautions a geneticist and practicing physician at the University of North Carolina at Chapel Hill.