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Latest Mutation Stories

2011-12-16 14:08:31

Sequencing a cancer patient's 'exome' reveals mutations critical for improving diagnostic power and targeted therapy Cancer researchers at Cold Spring Harbor Laboratory (CSHL) have carried out the first comprehensive study of the changes seen in the DNA of a patient with mast cell leukemia (MCL), an extremely aggressive subtype of acute myeloid leukemia (AML) with a very poor prognosis. Their genomic survey has helped identify two previously unknown mutations that could directly...

2011-12-15 17:10:50

Experiments explain why almost all multicellular organisms begin life as a single cell Any multicellular animal, from a blue whale to a human being, poses a special difficulty for the theory of evolution. Most of the cells in its body will die without reproducing, and only a privileged few will pass their genes to the next generation. How could the extreme degree of cooperation multicellular existence requires ever evolve? Why aren't all creatures unicellular individualists determined...

2011-12-15 16:50:59

A new study has identified a gene mutation that researchers estimate dates back to 11,600 B.C., making it the second oldest human disease mutation yet discovered.   Researchers with the Ohio State University Comprehensive Cancer Center — Arthur G. James Cancer Hospital and Richard J. Solove Research Institute led the study and estimate that the mutation arose in the Middle East some 13,600 years ago. Only a mutation seen in cystic fibrosis that arose between 11,000 and 52,000...

2011-12-15 14:33:18

Scientists have uncovered a critical genetic mutation in some patients with myelodysplastic syndromes – a group of blood cancers that can progress to a fatal form of leukemia. The research team at Washington University School of Medicine in St. Louis also found evidence that patients with the mutation are more likely to develop acute leukemia. While this finding needs to be confirmed in additional patients, the study raises the prospect that a genetic test could one day more...

2011-12-12 23:34:13

Results may aid treatment decisions in chronic lymphocytic leukemia The most comprehensive search to date of DNA abnormalities in chronic lymphocytic leukemia (CLL) has unearthed several new altered genes that drive this common blood cancer, a finding that could potentially help doctors predict whether an individual patient's disease will progress rapidly or remain indolent for years, say scientists from Dana-Farber Cancer Institute and the Broad Institute. Using powerful...

2011-12-12 16:07:09

Scientists at University College Dublin, Ireland, have identified a genetic alteration which causes a child to be born with no eyes — a condition called anophthalmia. According to the findings published in the current issue (December 2011) of Human Mutation, a child's eyes will not develop fully in the womb if the child has alterations in both copies of its STRA6 gene which is responsible for transporting vitamin A into the cells. This new discovery means that scientists can now...

2011-12-12 13:25:40

Women who inherit the cancer genes BRCA1 or BRCA2 from their paternal lineage may get a diagnosis a decade earlier than those women who carry the cancer genes from their mother and her ancestors, according to a new study by researchers at the North Shore-LIJ Health System's Monter Cancer Center in Lake Success, NY. The findings were reported on Thursday, Dec. 8, at the San Antonio Breast Cancer Symposium. Iuliana Shapira, MD, North director of cancer genetics, and her colleagues conducted...

2011-12-06 23:14:36

Reseach presented at ASCB annual meeting Reproductive and somatic aging use different molecular mechanisms that show little overlap between the types of genes required to keep oocytes healthy and the genes that generally extend life span, according to Coleen Murphy, Ph.D., of Princeton University, who described her new findings on oocyte aging at the American Society for Cell Biology Annual Meeting Dec. 6 in Denver. The different genetic pathways help explain why a woman's fertility...

2011-11-28 22:59:58

Mechanism of UV-induced DNA Dewar lesion revealed Excessive exposure to ultraviolet (UV) radiation of sunlight can result in skin damage and may even induce skin cancers. Irradiation with UV light causes mutations in the DNA, which can interfere with or even inhibit the read-out of genetic information and hence affect the cell function. The Dewar lesion is one of the major UV-induced reaction products, which can itself generate mutations. Understanding the mechanism that leads to the...

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2011-11-24 11:27:46

We all understand that genetics determine our height, but scientists want to dig in deeper and find which genes might be directly responsible. Scientists have released a study, published by Cell Press in the December issue of the American Journal of Human Genetics, suggesting that uncommon genetic deletions are associated with short stature. Researchers are focusing on genetic abnormalities, known as copy number variants (CNV), which are alterations within the chromosome that determine if...


Word of the Day
lambent
  • Licking.
  • Hence Running along or over a surface, as if in the act of licking; flowing over or along; lapping or bathing; softly bright; gleaming.
This word comes the Latin 'lambere,' to lick.
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