A study presented at the AACR Annual Meeting 2013 indicates that a DNA blood test using Inostics' BEAMing Digital PCR can detect more mutations associated with secondary drug resistance in GIST patients than testing conventional biopsies. Therapies targeted to specific cancer-causing mutations...
New research, published in Neuron, gives insight into how single mutations in the VCP gene cause a range of neurological conditions including a form of dementia called Inclusion Body Myopathy, Paget's Disease of the Bone and Frontotemporal Dementia (IBMPFD), and the motor neuron disease...
A multi-institution group of researchers has found new candidate disease proteins for neurodegenerative disorders. James Shorter, Ph.D., assistant professor of Biochemistry and Biophysics at the Perelman School of Medicine, University of Pennsylvania, Paul Taylor, M.D., PhD, St...
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Genomic technology has revolutionized gene discovery and disease understanding in autism, according to an article published in the December 20 issue of the journal Neuron. The paper highlights the impact of a genomic technology called high-throughput sequencing (HTS) in discovering numerous new...
A review in the December issue of the journal Archives of Pathology & Laboratory Medicine by Paul Bunn Jr, MD, University of Colorado Cancer Center investigator and past president of ASCO, IASLC and AACI describes the current state of lung cancer care. "We're in a new paradigm in which we...
The zebrafish is a potential tool for testing one class of unique individual genetic differences found in humans, and may yield information helpful for the emerging field of personalized medicine, according to a team led by Penn State College of Medicine scientists. The differences, or...
Hundreds of mutations exist in leukemia cells at the time of diagnosis, but nearly all occur randomly as a part of normal aging and are not related to cancer, new research shows. Scientists at Washington University School of Medicine in St. Louis have found that even in healthy people, stem...
According to a study published online in Nature Genetics, researchers have identified three new mutations associated with megalencephaly (enlarged brain size), cancer, autism, hydrocephalus, skin growth disorders, epilepsy, and vascular anomalies. The study, led by Seattle Children's Research...
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...
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...
It has long been recognized that autism runs in families, suggesting a substantial genetic component to the disease. Yet few genes have so far been identified and the underlying genetic architecture of autism - that is, how many genes contribute and to what extent they influence a person's...
The most common kidney disease passed down through families, autosomal dominant polycystic kidney disease (ADPKD) affects one in 400 to 1,000 individuals and is characterized by cysts on the kidneys. The condition slowly gets worse and leads to kidney failure. Most ADPKD cases arise in adults...
Too many average-risk women and too few high-risk women receive genetic counseling and testing for hereditary breast and ovarian cancers, research shows. Experts at The University of Texas MD Anderson Cancer Center share advice to help patients and their doctors better evaluate family history...
Researchers at UT Southwestern Medical Center say there are at least 70 genetic mutations involved in the formation of colon cancer, far more than scientists previously thought. Based on the study, published in the July 2011 Cancer Research (Priority Reports), researchers are suggesting a new...
Most mutations in the genes of the Salmonella bacterium have a surprisingly small negative impact on bacterial fitness. And this is the case regardless whether they lead to changes in the bacterial proteins or not. This is shown by Uppsala University scientists in an article being published...
Mutations that cause Parkinson's disease prevent cells from destroying defective mitochondria, according to a study published online May 10 in the Journal of Cell Biology. Defects in the ubiquitin ligase Parkin are linked to early-onset cases of this neurodegenerative disorder. The wild-type...
An important gene that normally protects the body against cancer can itself cause a variety of cancers depending on the specific mutation that damages it, according to a new study by investigators at the Ohio State University Comprehensive Cancer Center-Arthur G. James Cancer Hospital and...
An important gene that normally protects the body against cancer can itself cause a variety of cancers depending on the specific mutation that damages it, according to a new study by investigators at the Ohio State University Comprehensive Cancer Center-Arthur G. James Cancer Hospital and...
Chemists at UC San Diego and statisticians at Harvard University have developed a novel way to trace mutations in HIV that lead to drug resistance. Their findings, once expanded to the full range of drugs available to treat the infection, would allow doctors to tailor drug cocktails to the...