Mutation News and Research

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‘PapGene’ test detects endometrial and ovarian cancers

Researchers have adapted the papanicolaou smear test currently used to detect cervical cancer so that it can be used to screen women for endometrial and ovarian cancers.

14 Jan 2013

Melanomas that develop resistance to vemurafenib also become addicted to the drug

Researchers in California and Switzerland have discovered that melanomas that develop resistance to the anti-cancer drug vemurafenib (marketed as Zelboraf), also develop addiction to the drug, an observation that may have important implications for the lives of patients with late-stage disease.

11 Jan 2013

Johns Hopkins develops PapGene test to diagnose ovarian and endometrial cancers

Using cervical fluid obtained during routine Pap tests, scientists at the Johns Hopkins Kimmel Cancer Center have developed a test to detect ovarian and endometrial cancers. In a pilot study, the "PapGene" test, which relies on genomic sequencing of cancer-specific mutations, accurately detected all 24 (100 percent) endometrial cancers and nine of 22 (41 percent) ovarian cancers. Results of the experiments are published in the Jan. 9 issue of the journal Science Translational Medicine.

11 Jan 2013

Mutation that causes sickle cell anemia may offer new way to treat drug-resistant cancers

The genetic mutation that causes sickle cell anemia also turns red blood cells into potent tumor killers and may offer a new way to treat cancers that are resistant to existing treatments, according to research published January 9, 2013 in the open access journal PLOS ONE by David S. Terman of Jenomic Research Institute and colleagues from Duke University and other institutions.

10 Jan 2013

Minor mutations can lead to big improvements in antibiotic resistance

Rice University scientists have found that mutations of small effect can turn out to be game changers in the bacterial fight against antibiotic drugs.

10 Jan 2013

Scientists wrestle to understand why Huntington's can produce variable symptoms

Scientists have wrestled to understand why Huntington's disease, which is caused by a single gene mutation, can produce such variable symptoms. An authoritative review by a group of leading experts summarizes the progress relating cell loss in the striatum and cerebral cortex to symptom profile in Huntington's disease, suggesting a possible direction for developing targeted therapies.

9 Jan 2013

Seven scientists named 2013 recipients of Damon Runyon-Rachleff Innovation Award

The Damon Runyon Cancer Research Foundation announced that seven scientists with novel approaches to fighting cancer have been named 2013 recipients of the Damon Runyon-Rachleff Innovation Award.

8 Jan 2013

Study highlights role of Protein S in maintenance of healthy retina

Researchers at the Hebrew University of Jerusalem, in collaboration with researchers at the Salk Institute in California, have found for the first time that a specific protein is essential not only for maintaining a healthy retina in the eye, but also may have implications for understanding and possibly treating other conditions in the immune, reproductive, vascular and nervous systems, as well as in various cancers.

7 Jan 2013

JAMA column outlines need for frozen, larger specimens in DNA-sequencing era

Genetic sequencing technology is altering the way cancer is diagnosed and treated, but traditional specimen handling methods threaten to slow that progress.

7 Jan 2013

UCSB scientists publish groundbreaking study results of Type 2 diabetes

While legions of medical researchers have been looking to understand the genetic basis of disease and how mutations may affect human health, a group of biomedical researchers at UC Santa Barbara is studying the metabolism of cells and their surrounding tissue, to ferret out ways in which certain diseases begin.

7 Jan 2013

Stanford scientists identify molecular basis for hypertrophic cardiomyopathy

When a young athlete dies unexpectedly on the basketball court or the football field, it's both shocking and tragic. Now Stanford University School of Medicine researchers have, for the first time, identified the molecular basis for a condition called hypertrophic cardiomyopathy that is the most common cause for this type of sudden cardiac death.

4 Jan 2013

New insight into 22q11.2 deletion syndrome

Research out of the George Washington University (GW), published in the journal Proceedings of the National Academy of Sciences (PNAS), reveals another piece of the puzzle in a genetic developmental disorder that causes behavioral diseases such as autism.

4 Jan 2013

Optofluidics allow for new understanding of resistance to antibiotics

It's often difficult to completely eliminate a bacterial infection with antibiotics; part of the population usually manages to survive. We've known about this phenomenon for quite some time, dating back nearly to the discovery of penicillin. For more than 50 years, scientists have believed that the resistant bacteria were individuals that had stopped growing and dividing.

4 Jan 2013

New technique can precisely add or delete genes in living cells

Researchers at MIT, the Broad Institute and Rockefeller University have developed a new technique for precisely altering the genomes of living cells by adding or deleting genes.

4 Jan 2013

Trovagene, MD Anderson partner to detect transrenal BRAF mutations in metastatic cancers

Trovagene, Inc., a developer of transrenal molecular diagnostics, announced that it has entered into a clinical collaboration with The University of Texas MD Anderson Cancer Center to detect transrenal BRAF mutations in the urine of patients with advanced or metastatic cancers.

3 Jan 2013

Model-independent way to study ion channel gating

Two studies in The Journal of General Physiology (JGP) help pave the way for a "shortcut" model-free approach to studying activation of "polymodal" ion channels-channels that open in response to multiple stimuli. Transmembrane ion channels respond to various physiological stimuli to regulate numerous cellular functions. Different classes of channels respond to different types of stimuli; some channels, for instance, respond to changes in membrane potential whereas others are activated by ligand binding.

28 Dec 2012

Researchers sequence entire gene to identify mutations that cause hyperinsulinism

Congenital hyperinsulinism is a genetic condition where a baby's pancreas secretes too much insulin. It affects approximately one in 50,000 live births and in severe cases requires the surgical removal of all or part of the pancreas.

28 Dec 2012

Novel approach to sort out good or bad mutations associated with lymphoma

As anyone familiar with the X-Men knows, mutants can be either very good or very bad - or somewhere in between. The same appears true within cancer cells, which may harbor hundreds of mutations that set them apart from other cells in the body; the scientific challenge has been to figure out which mutations are culprits and which are innocent bystanders.

28 Dec 2012

Immune-promoting drugs may control recurrent disease

Nearly half of the 700,000 cancer patients who undergo surgical removal of a primary tumor each year suffer a recurrence of their disease at some point, and many of those patients will eventually die from their disease.

28 Dec 2012

New cost-effective, less invasive MRI method for diagnosis of dementia

A new way to use MRI scans may help determine whether dementia is Alzheimer's disease or another type of dementia, according to new research published in the December 26, 2012, online issue of Neurology®, the medical journal of the American Academy of Neurology.

27 Dec 2012