Archive for the ‘Genetics’ Category
Thursday, March 11th, 2010
Heralding what they hope is a new era of personalized genomic medicine, experts in the US have identified the gene behind a patient's inherited neurological disorder, in this case a form of Charcot-Marie-Tooth disease, by sequencing his complete genome. Details of the quest are published online in the 10 March issue of the New England Journal of Medicine...
Thursday, February 18th, 2010
For years, biologists have wondered how it is possible that not every person who carries a mutated gene expresses the trait or condition associated with the mutation. This common but poorly understood phenomenon, known as incomplete penetrance, exists in a wide range of organisms, including humans...
Friday, February 5th, 2010
In a study presented at the Society for Maternal-Fetal Medicine's (SMFM) annual meeting, The Pregnancy Meeting™ in Chicago, researchers unveiled findings that show that it is not cost effective to screen for spinal muscular atrophy. Spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality and the second most common inherited autosomal recessive disorder...
Friday, February 5th, 2010
Male homosexuality doesn't make complete sense from an evolutionary point of view...
Tuesday, February 2nd, 2010
In the new Swedish-Finnish study, published in Nature Genetics, the researchers identified five loci that predispose to an SLE-related disease in Nova Scotia duck tolling retrievers. The study indicates that the homogeneity of strong genetic risk factors within dog breeds make dogs an excellent model in which to identify pathways involved in human complex diseases...
Tuesday, January 26th, 2010
Scientists have identified a gene family that plays a key role in one of the earliest stages of development in which an embryo distinguishes its left side from the right and determines how organs should be positioned within the body. The finding in mice likely will lead to a better understanding of how certain birth defects occur in humans...
Friday, January 1st, 2010
People who identify as African-American may be as little as 1 percent West African or as much as 99 percent, just one finding of a large-scale, genome-wide study of African and African-American ancestry released today...
Friday, November 27th, 2009
The first genetic historical map of the Han Chinese, the largest ethnic population in the world, as they migrated from south to north over evolutionary time was published online by the American Journal of Human Genetics by scientists at the Genome Institute of Singapore (GIS)...
Friday, November 27th, 2009
The first genetic historical map of the Han Chinese, the largest ethnic population in the world, as they migrated from south to north over evolutionary time was published online by the American Journal of Human Genetics by scientists at the Genome Institute of Singapore (GIS)...
Friday, November 13th, 2009
A paper by University of Notre Dame biologist Giles Duffield and a team of researchers offers new insights into a gene that plays a key role in modulating the body's Circadian system and may also simultaneously modulate its metabolic system. The relationship between circadian and metabolic systems the researchers describe could have important implications for understanding the higher incidence of cardiovascular disease, obesity and diabetes among shift workers.
Saturday, November 7th, 2009
Embryonic development is like a well-organised building project, with the embryo's DNA serving as the blueprint from which all construction details are derived. Cells carry out different functions according to a developmental plan, by expressing, i.e. turning on, different combinations of genes.
Sunday, October 11th, 2009
A sophisticated computational algorithm, applied to a large set of gene markers, has achieved greater accuracy than conventional methods in assessing individual risk for type 1 diabetes. A research team led by Hakon Hakonarson, M.D., Ph.D.
Thursday, October 8th, 2009
In research published by Nature, an international team describes the finest map of changes to the structure of human genomes and a resource they have developed for researchers worldwide to look at the role of these changes in human disease. They also identify 75 'jumping genes' - regions of our genome that can be found in more than one location in some individuals.
Wednesday, October 7th, 2009
Theresa M. Reineke, associate professor of chemistry in the College of Science, and colleagues in her lab at Virginia Tech and at the University of Cincinnati have developed a new molecule that can travel into cells, deliver genetic cargo, and packs a beacon so scientists can follow its movements in living systems. "My lab has been trying to find a way to deliver genetic-based drugs into cells." said Reineke.
Wednesday, September 30th, 2009
Do some people have special "susceptibility" genes that make them vulnerable to obesity and diabetes, triggered by poor diet and less exercise? Stephen McGarvey, professor of community health and anthropology at Brown University, will attempt to answer that question as part of a new a five-year, $5.2-million National Institutes of Health grant to conduct detailed genotyping of thousands of adults in the independent nation of Samoa.
Thursday, August 27th, 2009
Researchers funded by the National Institutes of Health have developed an experimental technique with the potential to prevent a class of hereditary disorders passed on from mother to child. The technique, as yet conducted only in nonhuman primates, involves transferring the hereditary material from one female's egg into another female's egg from which the hereditary material has been removed.
Monday, August 17th, 2009
Parents of healthy newborns often remark on the miracle of life. The joining of egg and sperm to create such delightful creatures can seem dazzlingly beautiful if the chromosome information from each parent has been translated properly into the embryo and newborn. The darker side is that when extra copies of chromosomes or fewer than the normal 46 (23 from each parent) are present, tragic birth defects can occur.
Tuesday, July 21st, 2009
Scientists have a better understanding of what causes an abnormal number of chromosomes in offspring, a condition called aneuploidy that encompasses the most common genetic disorders in humans, such as Down syndrome, and is a leading cause of pregnancy loss. To pinpoint what goes awry in these cases, researchers at the U.S. Department of Energy's Lawrence Berkeley National Laboratory and the University of Tennessee, Knoxville studied mice.