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Tag Archives: Genetics

Primary care doctors reluctant to provide genetics assessment in routine care

Primary care doctors reluctant to provide genetics assessment in routine care

Primary care providers report many challenges to integrating genetics services into routine primary care, according to research published today in Genetics in Medicine . Continue reading

New genetic targets discovered in fight against muscle-wasting disease

New genetic targets discovered in fight against muscle-wasting disease

Scientists have pinpointed for the first time the genetic cause in some people of an incurable muscle-wasting disease, Emery-Dreifuss muscular dystrophy (EDMD). The international research team led by the University of Leicester say the finding of two target genes opens the possibility of developing drugs to tackle the disease in these patients. Their work has been published today in the journal PLOS Genetics . Continue reading

New genetic targets discovered in fight against muscle-wasting disease

New genetic targets discovered in fight against muscle-wasting disease

Scientists have pinpointed for the first time the genetic cause in some people of an incurable muscle-wasting disease, Emery-Dreifuss muscular dystrophy (EDMD). The international research team led by the University of Leicester say the finding of two target genes opens the possibility of developing drugs to tackle the disease in these patients Continue reading

Molecular mechanisms of birth defects among older women: Why older women can have babies with Down Syndrome

Molecular mechanisms of birth defects among older women: Why older women can have babies with Down Syndrome

Dartmouth researchers studying cell division in fruit flies have discovered a pathway that may improve understanding of molecular mistakes that cause older women to have babies with Down syndrome. The study shows for the first time that new protein linkages occur in immature egg cells after DNA replication and that these replacement linkages are essential for these cells to maintain meiotic cohesion for long periods. The study appears in the journal PLOS Genetics Continue reading

Molecular mechanisms of birth defects among older women: Why older women can have babies with Down Syndrome

Molecular mechanisms of birth defects among older women: Why older women can have babies with Down Syndrome

Dartmouth researchers studying cell division in fruit flies have discovered a pathway that may improve understanding of molecular mistakes that cause older women to have babies with Down syndrome. The study shows for the first time that new protein linkages occur in immature egg cells after DNA replication and that these replacement linkages are essential for these cells to maintain meiotic cohesion for long periods Continue reading

In one of nature’s innovations, a single cell smashes and rebuilds its own genome

In one of nature’s innovations, a single cell smashes and rebuilds its own genome

Life can be so intricate and novel that even a single cell can pack a few surprises, according to a study led by Princeton University researchers. The pond-dwelling, single-celled organism Oxytricha trifallax has the remarkable ability to break its own DNA into nearly a quarter-million pieces and rapidly reassemble those pieces when it’s time to mate, the researchers report in the journal Cell. Continue reading

Ultraviolet light-induced mutation drives many skin cancers, researchers find

Ultraviolet light-induced mutation drives many skin cancers, researchers find

A genetic mutation caused by ultraviolet light is likely the driving force behind millions of human skin cancers, according to researchers at the Stanford University School of Medicine. Continue reading

Disease in a dish approach could aid Huntington’s disease discovery

Disease in a dish approach could aid Huntington’s disease discovery

Creating induced pluripotent stem cells or iPS cells allows researchers to establish “disease in a dish” models of conditions ranging from Alzheimer’s disease to diabetes. Scientists at Yerkes National Primate Research Center, Emory University have now applied the technology to a model of Huntington’s disease (HD) in transgenic nonhuman primates, allowing them to conveniently assess the efficacy of potential therapies on neuronal cells in the laboratory. Continue reading

Researchers define spontaneous retinal neovascular mouse model

Researchers define spontaneous retinal neovascular mouse model

Neovascular age-related macular degeneration (AMD), which involves formation of abnormal blood vessels in the retina, is a leading cause of vision loss. A subgroup of neovascular AMD, known as retinal angiomatous proliferation (RAP) disease, occurs when neovessels originating from the inner retinal vascular bed grow toward the outer retina and form leaky pathologic vessels beneath the retina. In a study featured in the Sept. Continue reading

Vaccine for Ebola? Experts answer questions

Vaccine for Ebola? Experts answer questions

Vermont Medicine: What is Ebola virus and where are Ebola infections most commonly seen? Continue reading