In exploring the genetics of mitochondria - the powerhouse of the cell - researchers at Fred Hutchinson Cancer Research Center have stumbled upon a finding that challenges previously held beliefs about the role of mutations in cancer development. For the first time, researchers have found that...
More than one-fifth of people who have received referrals to test for cancer-causing genes say they will only undergo testing if their insurance covers the cost - just as more insurers are instituting cost-sharing for medical services like genetic testing, according to new findings from Fox...
Harvard School of Public Health (HSPH) researchers have found that detailed knowledge about your genetic makeup - the interplay between genetic variants and other genetic variants, or between genetic variants and environmental risk factors - may only change your estimated disease prediction risk...
Scientists at A*STAR's Institute of Medical Biology (IMB), in collaboration with doctors and scientists in Jordan, Turkey, Switzerland and USA, have identified the genetic cause of a birth defect known as Hamamy syndrome[1]. Their groundbreaking findings were published in the prestigious journal...
These findings are not about the classic story of gift-giving, although the MAGI genes (officially named membrane associated guanylate kinase, WW and PDZ domain containing proteins) do influence brain function in important ways. MAGI1 and MAGI2 are genes that code for the MAGI proteins. These...
Scientists from the Medical Research Council (MRC) Institute of Genetics and Molecular Medicine (IGMM) at the University of Edinburgh have discovered an enzyme that corrects the most common mistake in mammalian DNA. The mistake is the inclusion of individual bits of RNA within the DNA sequence...
A research group from Ben-Gurion University of the Negev (BGU) and Soroka University Medical Center led by Prof. Ohad Birk has discovered genetic mutations that lead to intestinal blockages in newborns from two Bedouin tribes in Israel. The new paper published in the American Journal of Human...
Shrinkage of the hippocampus occurs with age and is caused by the cumulative effect of various factors. Hippocampal atrophy is a recognized biological marker of Alzheimer's disease, so it is vital that researchers determine the cause of this process. An international study under the French...
Rutgers scientists think they have found a way to prevent and possibly reverse the most debilitating symptoms of a rare, progressive childhood degenerative disease that leaves children with slurred speech, unable to walk, and in a wheelchair before they reach adolescence...
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A hidden and never before recognized layer of information in the genetic code has been uncovered by a team of scientists at the University of California, San Francisco (UCSF) thanks to a technique developed at UCSF called ribosome profiling, which enables the measurement of gene activity inside...
In the largest study of its kind, researchers have profiled genetic changes in cancer with drug sensitivity in order to develop a personalised approach to cancer treatments. The study is published in Nature on Thursday 29 March 2012. The team uncovered hundreds of associations between mutations...
One of the first large-scale genomic studies conducted in a developing country has discovered genetic variants that elevate the risk for skin lesions in people chronically exposed to arsenic. Genetic changes found near the enzyme for metabolizing the chemical into a less toxic form can...
A series of 15 scientific papers published this week in the journals of the Genetics Society of America (Genetics and G3: Genes|Genomes|Genetics) put North Carolina at the epicenter of a scientific resource called the Collaborative Cross- a "library" of genetic diversity that scientists believe...
UNC researchers have discovered how the genetic defect underlying one of the most common congenital heart diseases keeps the critical organ from developing properly. According to the new research, mutations in a gene called SHP-2 distort the shape of cardiac muscle cells so they are unable to...
According to a study published in the online version of the journal The Oncologist, a genetic variation that increases the risk of individuals who take bisphosphonates, developing serious necrotic jaw bone lesions, has been identified by researchers at the Columbia University College of Dental...
A new study published in the journal Nature Medicine by NYU Cancer Institute researchers, shows how the cancer causing gene Notch, in combination with a mutated Polycomb Repressive Complex 2 (PRC2) protein complex, work together to cause T- cell acute lymphoblastic leukemia (T-ALL). T-ALL is an...
Multicentric carcinogenesis with the same genetic mutation appears to occur in lung adenocarcinoma, according to data presented at the AACR-IASLC Joint Conference on Molecular Origins of Lung Cancer: Biology, Therapy and Personalized Medicine, held Jan. 8-11, 2012. Data also demonstrated that...
Researchers have begun to identify which mutations and pathway changes lead to lung cancer in never-smokers - a first step in developing potential therapeutic targets. Never-smokers (defined as an individual who smoked fewer than 100 cigarettes in his or her lifetime) are estimated to account...
The main symptom of Rotor syndrome is jaundice caused by a buildup of a substance known as conjugated bilirubin. Bilirubin is a yellow substance generated in large quantities when the body recycles red blood cells. It is conjugated in the liver to make it soluble in water so that it can be...