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Second generation noninvasive fetal genome analysis reveals de novo mutations, single-base parental inheritance, and preferred DNA ends

A group of scientists at the Chinese University of Hong Kong explored the limit of noninvasive prenatal testing by performing genome-wide sequencing of maternal plasma DNA at 195× and 270× haploid genome coverages. Combined with the use of a series of bioinformatics filters, fetal de novo mutations could be detected with a positive predictive value thatContinue reading “Second generation noninvasive fetal genome analysis reveals de novo mutations, single-base parental inheritance, and preferred DNA ends”

Big data analytical methods reveal ‘social character’ of genes

A new study at the University of Haifa has used “big data” analytical methods to reveal the “social character” of genes – a phenomenon in certain diseases whereby genes operate jointly rather than independently. “The problem is that the possible number of combinations of different genes is enormous, and it is almost impossible to examineContinue reading “Big data analytical methods reveal ‘social character’ of genes”

Novel ‘gene therapy in a box’ could effectively deliver modified blood stem cells

A table-top device that enables medical staff to genetically manipulate a patient’s blood to deliver potential new therapies for cancer, HIV and other diseases would eliminate the need for multi-million-dollar “clean rooms,” making gene therapy more possible for even the poorest of countries. The so-called “gene therapy in a box,” developed by scientists at FredContinue reading “Novel ‘gene therapy in a box’ could effectively deliver modified blood stem cells”

Gene expression profiles help understand molecular mechanisms behind various diseases

Over the past decades, researchers seeking to understand molecular mechanisms underlying various diseases, notably cancer, have taken advantage of DNA microarrays to interrogate tissues specimen of patients for the expression status of thousands of genes at once. Jointly, such gene expression status of each gene in the genome, measured as the level of their transcripts,Continue reading “Gene expression profiles help understand molecular mechanisms behind various diseases”

Gene Therapy Types

By Sally Roberson Gene therapy is a strategy used to treat disease by correcting defective genes or modifying  how genes they are expressed. The techniques used involve administrating a specific DNA or RNA sequence. Researchers hope that in the future, gene therapy will enable patients to be treated by inserting genes into their cells ratherContinue reading “Gene Therapy Types”

Control of blood pressure, blood sugar and LDL-cholesterol levels reduces the risk of cardiovascular disease

While controlling blood pressure, blood sugar and LDL-cholesterol levels reduces the risk of cardiovascular disease in people with diabetes, only 7 percent of diabetic participants in three major heart studies had recommended levels of these three factors, according to research from the Heart Disease Prevention Program at the University of California, Irvine School of Medicine.Continue reading “Control of blood pressure, blood sugar and LDL-cholesterol levels reduces the risk of cardiovascular disease”

Nitric oxide is essential for the delivery of oxygen to cells and tissues

Professor Jonathan Stamler’s latest findings regarding nitric oxide have the potential to reshape fundamentally the way we think about the respiratory system – and offer new avenues to save lives. It may be time to rewrite the textbooks. Scientific dogma has the respiration process involving only two elements — oxygen and carbon dioxide. Specifically, theContinue reading “Nitric oxide is essential for the delivery of oxygen to cells and tissues”

Researchers discover enzyme in the brain that acts like switch to turn off obesity

You’ve tried all the diets. No matter: you’ve still regained the weight you lost, even though you ate well and you exercised regularly! This may be due to a particular enzyme in the brain: the alpha/beta hydrolase domain-6 enzyme, better known as ABHD6. A study published this week in Cell Reports demonstrates that when thisContinue reading “Researchers discover enzyme in the brain that acts like switch to turn off obesity”

Lack of oxygen in body tissues creates a defect of red blood cells that further exacerbates the condition by constricting blood vessels in the lung

A persistent scarcity of oxygen in body tissues – a widespread problem in patients with heart or lung disease – can create a defect of red blood cells that further exacerbates the condition by constricting blood vessels in the lung, Howard Hughes Medical Institute researchers at Duke University Medical Center have found. What’s more, theContinue reading “Lack of oxygen in body tissues creates a defect of red blood cells that further exacerbates the condition by constricting blood vessels in the lung”

Infiltration of white blood cells into blood vessels may explain high blood pressure in pregnancy

Virginia Commonwealth University School of Medicine researchers have discovered that the infiltration of white blood cells into an expectant mother’s blood vessels may explain high blood pressure in pregnancy. The findings could lead to novel avenues of treatment for pregnant women with preeclampsia based on regulation of white blood cells called neutrophilis, their products orContinue reading “Infiltration of white blood cells into blood vessels may explain high blood pressure in pregnancy”

Smokers who quit early does not qualify for lung cancer screening, say Mayo Clinic researchers

A decline in smoking rates may mean that many people who could have benefited from early detection of lung cancer are dying because they don’t qualify for low-dose CT scans, according to a group of Mayo Clinic researchers. Their research appears in the Feb. 24 issue of JAMA, the journal of the American Medical Association.Continue reading “Smokers who quit early does not qualify for lung cancer screening, say Mayo Clinic researchers”

Study: Gene variant linked to increased risk of vincristine-induced peripheral neuropathy in children

Children with acute lymphoblastic leukemia who had a certain gene variant experienced a higher incidence and severity of peripheral neuropathy after receiving treatment with the cancer drug vincristine, according to a study in the February 24 issue of JAMA. Cancer remains the leading cause of death by disease in U.S. children despite major advances inContinue reading “Study: Gene variant linked to increased risk of vincristine-induced peripheral neuropathy in children”

Why do you need to know your complete DNA sequence?

Advantages of Whole Genome Sequencing or complete DNA Sequence test Creating personalized plans to treat disease may be possible based not only on the mutant genes causing a disease, but also other genes in the patient’s genome. Genotyping cancer cells and understanding what genes are misregulated allows physicians to select the best chemotherapy and potentiallyContinue reading “Why do you need to know your complete DNA sequence?”