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Scientists discover clues to the pancreatic cysts' possible origins

Scientists at Johns Hopkins have surveyed the DNA in four common types of pancreatic cysts, and have determined that each type bears a distinct pattern of gene mutations. Pancreatic cysts are present in about two percent of U.S. adults, and can, in some cases, require surgical removal and microscopic analysis to determine their type and likelihood of turning cancerous.

8 Dec 2011

Researchers sequence entire transcriptome of mouse neural retina

The population of Eric Morrow's seminar "Neurogenetics and Disease" comprises mainly undergraduates who were skipping down the halls of their elementary schools when the first drafts of human genome sequences were published. When Morrow, assistant professor of biology, recently asked the class how to find the mutation behind a disease, a hand shot up in the back of the class to signal the answer: "Sequence the patient's genome."

8 Dec 2011

Next generation personal genomic testing now widely available

The era of widely available next generation personal genomic testing has arrived and with it the ability to quickly and relatively affordably learn the sequence of your entire genome. This would include what is referred to as the "exome," your complete set of protein-coding sequences.

7 Dec 2011

New research on bed bug's ability to withstand genetic bottleneck of inbreeding

New research on the bed bug's ability to withstand the genetic bottleneck of inbreeding, announced today at the American Society of Tropical Medicine and Hygiene (ASTMH) annual meeting, provides new clues to explain the rapidly growing problem of bed bugs across the United States and globally.

7 Dec 2011

Scientists help uncover evolutionary history of TAS2R38 bitter taste receptor gene

Long the bane of picky eaters everywhere, broccoli's taste is not just a matter of having a cultured palate; some people can easily taste a bitter compound in the vegetable that others have difficulty detecting. Now a team of Penn researchers has helped uncover the evolutionary history of one of the genes responsible for this trait.

7 Dec 2011

New NHGRI funding plan sharpens focus of Genome Sequencing Program on medical apps

A new funding plan by the National Human Genome Research Institute (NHGRI) sharpens the focus of its flagship Genome Sequencing Program on medical applications. In addition to continuing on-going studies, the four-year, $416 million plan launches new efforts to find causes of rare inherited diseases and accelerate the use of genome sequence information in the medical care of patients.

7 Dec 2011

Supercomputer simulations give insight into proteins involved in drug detoxification

Supercomputer simulations at the Department of Energy's Oak Ridge National Laboratory are giving scientists unprecedented access to a key class of proteins involved in drug detoxification.

7 Dec 2011

Report shows how mutant gene influences lipid metabolism

People who carry a malfunctioning copy of a particular gene are especially good at clearing fat from their systems. The report in the December Cell Metabolism, a Cell Press publication, shows how the mutant gene influences metabolism in this way.

7 Dec 2011

Inbreeding in bed bugs one key to massive increases in infestations

New research on the bed bug’s ability to withstand the genetic bottleneck of inbreeding, announced today at the American Society of Tropical Medicine and Hygiene (ASTMH) annual meeting, provides new clues to explain the rapidly growing problem of bed bugs across the United States and globally. After mostly disappearing in the US in the 1950s, the common bed bug (Cimex lectularius) has reappeared with a vengeance over the past decade. These stubborn pests have developed a resistance to the insecticides, known as pyrethroids, commonly used against them.

6 Dec 2011

Scientists discover new candidate gene for Dravet syndrome

Dravet syndrome is a severe genetic epilepsy that appears early in life. About 75 percent of cases can be attributed to mutations in the SCN1A gene encoding the sodium channel NaV1.1. The remaining patients with this syndrome are without a definitive molecular genetic diagnosis. Research presented today at the American Epilepsy Society's 65th Annual Meeting has found a non-SCN1A candidate gene and suggests that Dravet syndrome may be caused by any one of a number of yet unidentified genes.

5 Dec 2011

CPEB4 protein plays a crucial role in cancer progression

A study by researchers Ra-l M-ndez, ICREA Research Professor at the Institute for Research in Biomedicine (IRB Barcelona) and Pilar Navarro at the IMIM (Institut de Recerca Hospital del Mar, Barcelona) describes a new reprogramming mechanism for the expression of genes responsible for turning a healthy cell into a tumor cell.

5 Dec 2011

Researchers identify ADHD gene variants involved in glutamate signaling

Pediatric researchers analyzing genetic influences in attention-deficit/hyperactivity disorder (ADHD) have found alterations in specific genes involved in important brain signaling pathways. The study raises the possibility that drugs acting on those pathways might offer a new treatment option for patients with ADHD who have those gene variants—potentially, half a million U.S. children.

5 Dec 2011

Bromide shows promise against SCN1A-associated Dravet syndrome with intractable seizures

In the mid-nineteenth century Charles Locock, physician to Queen Victoria, introduced bromide as the first effective treatment for epilepsy. The drug was little used in treating the disorder until 1868, however, when its efficacy against seizures was first demonstrated in a clinical trial. Bromide was the sole anticonvulsant available until 1912 and the introduction of phenobarbital.

5 Dec 2011

Promising new agent against sarcomas affecting children

MK 1775, a small, selective inhibitor molecule, has been found to be active against many sarcomas when tested by researchers at Moffitt Cancer Center in Tampa, Fla. Their findings, recently appearing in Molecular Cancer Therapeutics, published by the American Association for Cancer Research, suggest that a badly needed new agent against sarcomas - especially sarcomas affecting children - may be at hand.

3 Dec 2011

MK 1775 shows promise against sarcomas

MK 1775, a small, selective inhibitor molecule, has been found to be active against many sarcomas when tested by researchers at Moffitt Cancer Center in Tampa, Fla.

3 Dec 2011

ASH recognizes abstract presenters at 53rd annual meeting in San Diego

The American Society of Hematology (ASH) recognizes the following abstract presenters at the 53rd ASH annual meeting in San Diego, CA, with the highest scoring abstracts in the categories of undergraduate student, medical student, graduate student, resident physician, and postdoctoral fellow.

2 Dec 2011

First results from whole-genome sequencing clinical trial on triple negative breast cancer

Triple negative breast tumors, which make up nearly 20 percent of breast cancers, do not respond to treatment with targeted therapies such as Herceptin-(trastuzumab).

2 Dec 2011

New method reveals complete set of aberrant signaling pathways that give rise to cancers

One major obstacle in the fight against cancer is that anticancer drugs often affect normal cells in addition to tumor cells, resulting in significant side effects. Yet research into development of less harmful treatments geared toward the targeting of specific cancer-causing mechanisms is hampered by lack of knowledge of the molecular pathways that drive cancers in individual patients.

2 Dec 2011

Mutation on surface of human red blood cells provides protection against vivax malaria

A mutation on the surface of human red blood cells provides protection against malaria caused by the parasite Plasmodium vivax, research led by Case Western Reserve University School of Medicine shows.

2 Dec 2011

Cancer researchers create catalog of possible targets for new treatments

As cancer researchers continue to identify genetic mutations driving different cancer subtypes, they are also creating a catalog of possible targets for new treatments.

1 Dec 2011