Mutation News and Research

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Carcinogenesis is just another form of speciation, proposes new theory

Cancer patients may view their tumors as parasites taking over their bodies, but this is more than a metaphor for Peter Duesberg, a molecular and cell biology professor at the University of California, Berkeley.

27 Jul 2011

New Penn Center for Orphan Disease Research and Therapy

The Raymond and Ruth Perelman School of Medicine at the University of Pennsylvania announces the launching of a first-of-its-kind interdisciplinary center focused on discovering novel treatments for orphan diseases.

27 Jul 2011

Study suggests common process for both pleasurable and anxiety-reducing effects of nicotine

Removing a protein from cells located in the brain's reward center blocks the anxiety-reducing and rewarding effects of nicotine, according to a new animal study in the July 27 issue of The Journal of Neuroscience. The findings may help researchers better understand how nicotine affects the brain.

27 Jul 2011

Lack of genetic screening for cancers

In a new study published Monday in the journal Cancer, it was noted that while genetic testing to check if a woman has the BRCA1 or BRCA2 mutations can be a useful tool for preventing breast cancer and ovarian cancer in some cases, many doctors are not referring patients.

26 Jul 2011

Researchers reveal how photolyase can repair sunburn

Researchers who have been working for nearly a decade to piece together the process by which an enzyme repairs sun-damaged DNA have finally witnessed the entire process in full detail in the laboratory.

26 Jul 2011

Tumor marker, endoscopic ultrasound more likely to detect stage 1 pancreatic cancer

Researchers from New England report in a new study that using a tumor marker, serum CA 19-9, combined with an endoscopic ultrasound if the tumor marker is elevated, is more likely to detect stage 1 pancreatic cancer in a high-risk population than by using the standard means of detection.

26 Jul 2011

Adaptimmune announces opening of pilot clinical trial in synovial sarcoma

Adaptimmune announced today that it has opened a Pilot, open-label clinical trial in synovial sarcoma at the National Cancer Institute (NCI), Bethesda, Maryland, testing its enhanced T cell receptor T cell therapy. A second site is planned to open later this year at Washington University, St. Louis, Missouri.

25 Jul 2011

Fragile X syndrome study to reveal more

Fragile X syndrome is the most common inherited cause of intellectual disability in the world. Medical experts, including the Mater Hospital's Dr Helen Heussler, are today launching a new push to uncover the secrets of a disorder that affects a child born in Australia every week. Fragile X is passed from parent carriers who often exhibit very few symptoms. Estimates suggest more than 100,000 Australians either carry the gene mutation that causes Fragile X or have the syndrome, yet the vast majority have not been diagnosed, according to the Fragile X Association of Australia.

25 Jul 2011

Promising drug for Duchenne muscular dystrophy

Duchenne muscular dystrophy is a severely debilitating and lethal condition that affects 1 in 3,000. Females and males are affected, though females are rarely affected and are more often carriers. It is caused due to a defective gene that normally codes for the protein dystrophin, which helps provide a protective membrane around muscle fibers. Without this skin, muscle fibers become damaged and eventually die.

25 Jul 2011

Nanoviricides lead anti-HIV candidate as good as HAART cocktail therapy

NanoViricides, Inc. reports that its lead anti-HIV candidate achieved anti-HIV efficacy equivalent to a HAART triple drug cocktail in its recently completed animal study.

25 Jul 2011

Many doctors do not appropriately offer breast and ovarian cancer counseling

A new analysis has found that many doctors report that they do not appropriately offer breast and ovarian cancer counseling and testing services to their female patients. Published early online in CANCER, a peer-reviewed journal of the American Cancer Society, the study indicates that efforts are needed to encourage these services for high-risk women and discourage them for average-risk women.

25 Jul 2011

First high-resolution genetic maps for African American populations

UCLA life scientists and colleagues have produced one of the first high-resolution genetic maps for African American populations. A genetic map reveals the precise locations across the genome where DNA from a person's father and mother have been stitched together through a biological process called "recombination." This process results in new genetic combinations that are then passed on to the person's children.

25 Jul 2011

Humans' desire to kill rats has only made them stronger

Over millennia, mice have thrived despite humanity's efforts to keep them at bay. A Rice University scientist argues some mice have found two ways to achieve a single goal -- resistance to common poison.

22 Jul 2011

Insight into Fragile X Syndrome and autism

Researchers now have a much clearer understanding of how mutations in a single gene can produce the complex cognitive deficits characteristic of Fragile X Syndrome, the most common inherited form of intellectual disability.

22 Jul 2011

Roche's cobas KRAS Mutation Test for colorectal cancer now available in Europe

Roche announced today that the cobas KRAS Mutation Test is now commercially available in Europe for use in colorectal cancer.

22 Jul 2011

Microglia prune connections between neurons

Gardeners know that some trees require regular pruning: some of their branches have to be cut so that others can grow stronger. The same is true of the developing brain: cells called microglia prune the connections between neurons, shaping how the brain is wired, scientists at the European Molecular Biology Laboratory (EMBL) in Monterotondo, Italy, discovered.

22 Jul 2011

Taller women more prone to cancer: Study

New research has shown that taller women could be more prone to suffering from cancer. The British study published online in the medical journal The Lancet on Thursday said cancer risk rose about 16% for every 4-inch rise in height. Increasing height heightened the chances of cancers of breast, ovary, womb, bowel, leukemia and malignant melanoma (skin cancer) the study found.

21 Jul 2011

Researchers discover novel combination of two mutations in a patient with ADHD

Often enough, in science as in life, unexpected knowledge has a personal impact. Researchers seeking rare gene variants in just a few individuals with attention-deficit hyperactivity disorder (ADHD) discovered that one patient had a novel combination of two mutations.

21 Jul 2011

World's best genetic map now built in African-Americans

A group of researchers from the University of Oxford, Harvard Medical School and the University of Mississippi Medical Center has constructed the world's most detailed genetic map, a tool scientists can use to better understand the roots of disease and how DNA is passed generationally to create diversity in the human species.

21 Jul 2011

Researchers develop mouse model of rare human birth defect

A team of researchers from the University of Utah and Brigham Young University has developed a mouse model of focal dermal hypoplasia, a rare human birth defect that causes serious skin abnormalities and other medical problems. This animal model not only provides insight into studying the cause of focal dermal hypoplasia (FDH), but also offers a novel way to study a signaling pathway that is crucial for embryonic development.

21 Jul 2011