Genetic Mutation Current Events | Genetic Mutation News | 3
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Gene mingling increases sudden death risk
A multi-national research team has discovered that two genetic factors converge to increase the risk of sudden cardiac death. view more (2009-10-13)
PTC124 shows activity in cystic fibrosis; Phase 2 proof-of-concept data published in Lancet
New phase 2 data published today in The Lancet show that the investigational oral drug PTC124 demonstrates activity in nonsense-mutation cystic fibrosis (CF). The data show that treatment with PTC124 results in statistically significant improvements in the chloride channel function of patients with nonsense-mutation CF. The study was conducted at... view more... (2008-08-21)
New test offers hope of easy and affordable screening for hereditary breast cancer genes
Researchers at the Nottingham Breast Unit in the UK have developed an easy and affordable way of screening families for underlying hereditary genetic mutations which predispose them to developing breast cancer, the 3rd European Breast Cancer Conference in Barcelona heard today (Wednesday 20 March). By testing samples from either two family members... view more... (2002-03-18)
Toxic Bile Damages the Liver
Researchers at the Heidelberg University Hospital have discovered a new genetic disease that can lead to severe liver damage. Because a protective component of the bile is missing, the liver cells are exposed to the toxic components of the bile, resulting in cirrhosis of liver, a transformation of liver cells into connective tissue with a gradual... view more... (2008-10-27)
Mathematics reveals genetic pattern of tumor growth
Using mathematical theory, UC Irvine scientists have shed light on one of cancer's most troubling puzzles - how cancer cells can alter their own genetic makeup to accelerate tumor growth. view more (2007-06-25)
Many parents at-risk for cancer disclose genetic test results to children
Predictive genetic testing for adult-onset diseases, including cancer, is generally discouraged until the age at which interventions are believed to be helpful. view more (2007-08-20)
Genetic mutation increases risk of preterm birth
Genetic mutations in the Toll-like receptor 4 (TLR4) gene appear to have significant association with inflammatory injury to the placenta and developing baby, researchers from the University of Pittsburgh's department of obstetrics, gynecology and reproductive sciences report at the 28th annual meeting of the Society for Maternal-Fetal Medicine view more (2008-02-04)
New research on mutation in yeast can enhance understanding of human diseases
Yeast, a model organism heavily relied upon for studying basic biological processes as they relate to human health, mutates in a distinctly different pattern than other model organisms, a finding that brings researchers closer to understanding the role of evolutionary genetics in human diseases and cancer. view more (2008-06-20)
Discovery of genetic mutation in Leigh syndrome
Researchers at the Montreal Neurological Institute and Hospital (The Neuro), McGill University have discovered a genetic mutation underlying late-onset Leigh syndrome, a rare inherited metabolic disorder characterized by the degeneration of the central nervous system. view more (2009-08-11)
Children's Hospital researchers identify genetic mutation that may predict organ rejection
Using a novel combination of cutting-edge technologies to scan the human genome, researchers at Children's Hospital of Pittsburgh of UPMC have identified a genetic mutation that identifies transplant recipients who experience rejection. view more (2008-09-16)
A new mouse model provides insight into genetic neurological disorders
Neurosensory diseases are difficult to model in mice because their symptoms are complex and diverse. The genetic causes identified are often lethal when transferred to a mouse. view more (2009-05-26)
Irregular heartbeat linked to genetic mutation, Mayo Clinic study shows
Every day for 10 years, a seemingly heart-healthy 53-year-old woman experienced rapid and irregular heartbeats. She had no personal or family history of hypertension or hyperthyroidism. view more (2007-02-26)
First demonstration of muscle restoration in an animal model of Duchenne muscular dystrophy
Using a new type of drug that targets a specific genetic defect, researchers at the University of Pennsylvania School of Medicine, along with colleagues at PTC Therapeutics Inc. and the University of Massachusetts Medical School, have for the first time demonstrated restoration of muscle function in a mouse model of Duchenne's muscular dystrophy... view more... (2007-04-23)
Inherited melanoma risk: What you do know does help you
When people know the results of genetic tests confirming they have inherited an increased risk of developing melanoma, they follow skin cancer screening recommendations more proactively-much like those who have already been diagnosed with the potentially deadly disease. view more (2008-06-18)
A new gene for familial cancer was found
A research group at the University of Helsinki, Finland, has found a gene defect that causes hereditary colorectal cancer and defects in dentition. The finding was published online on March 23 in the American Journal of Human Genetics. The groups led by professors Sinikka Pirinen and Irma Thesleff at the Institute of Dentistry and Institute of... view more... (2004-03-26)
Rice lab finds molecular clues to Wilson disease
Using a combination of computer simulations and cutting-edge lab experiments, physical biochemists at Rice University have discovered how a small genetic mutation -- which is known to cause Wilson disease -- subtly changes the structure of a large, complex protein that the body uses to keep copper from building up to toxic levels. view more (2008-08-20)
Gene chip technology will lead to quick and accurate genetic testing for cystic fibrosis
A single genetic test that is capable of detecting all mutations involved in the development of cystic fibrosis could be just a few years away, the 20th annual conference of the European Society of Human Reproduction and Embryology heard today (Monday 28 June). Researchers at Monash University in Melbourne, Australia, have discovered that recently... view more... (2004-06-28)
Colon cancer risk in US traced to common ancester
A married couple who sailed from England to America around 1630 may be the ancestors of hundreds of people alive today who are at risk for a hereditary form of colon cancer. view more (2008-01-02)
Study of huge numbers of genetic mutations point to oxidative stress as underlying cause
A study that tracked genetic mutations through the human equivalent of about 5,000 years has demonstrated for the first time that oxidative DNA damage is a primary cause of the process of mutation - the fuel for evolution but also a leading cause of aging, cancer and other diseases. view more (2009-09-08)
Toward an explanation for Crohn's disease?
Twenty-five per cent of Crohn's disease patients have a mutation in what is called the NOD2 gene, but it is not precisely known how this mutation influences the disease. view more (2009-07-10)
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