Mutation News and Research

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Insight into male infertility

Around one in 20 men is infertile, but despite the best efforts of scientists, in many cases the underlying causes of infertility have remained a mystery.

16 May 2011

Researchers untangle two distinct ways in which tumor-suppressor protein works

Researchers at the Stanford University School of Medicine have untangled two distinct ways in which a common, naturally occurring "tumor-suppressor" protein works.

13 May 2011

Midbrain habenula region plays a key role in nicotine dependence

A person's vulnerability to nicotine addiction appears to have a genetic basis, at least in part. A region in the midbrain called the habenula plays a key role in this process, as Dr. In-s Iba-ez-Tallon and her team from the Max Delbr-ck Center for Molecular Medicine (MDC) Berlin-Buch, Germany, have now shown.

13 May 2011

New study sheds light on origins of myeloid leukemia

A new study by the NYU Cancer Institute, an NCI-designated cancer center, sheds light on the origins of myeloid leukemia, a type of blood cancer that affects children and adults.

13 May 2011

UCSD scientists discover steroid hormone that inhibits brain inflammation

Researchers at the University of California, San Diego School of Medicine have discovered a steroid hormone that inhibits inflammation in the brain. The findings, to be published in the May 13 issue of the journal Cell, have implications for understanding the exaggerated inflammatory responses that are characteristic features of numerous neurodegenerative diseases.

13 May 2011

Scientists discover enzyme that controls K-Ras gene responsible for lung cancer growth

Cancer Research UK scientists have discovered that an enzyme called C-Raf controls a hugely important gene responsible for the development of lung cancer, according to research published in Cancer Discovery.

13 May 2011

Scientists uncover gene responsible for Adams-Oliver Syndrome

Scientists at King's College London have, for the first time, uncovered a gene responsible for Adams-Oliver Syndrome, a condition which can cause birth defects of the heart, limbs, or blood vessels.

13 May 2011

Hydroxyurea safe and effective for infants, toddlers with sickle-cell disease

In what is being hailed as a significant advance in the treatment of children with sickle cell anemia, a drug commonly used to treat adults has been shown to be safe and effective in children.

13 May 2011

McGill research team finds distinct disease-causing mutations and saves baby girl

About two years ago, Dr. Philippe Gros, a McGill University professor in the Department of Biochemistry and a Principal Investigator in thd McGill Life Sciences Complex, described a mouse mutant that was immunodeficient and hypersensitive to the Bacille Calmette-Gu-rin (BCG) vaccine and to tuberculosis (TB).

12 May 2011

Noninvasive stool test can detect pancreatic cancer

Pancreatic cancer has one of the highest mortality rates of any of the major cancers, and of the 43,000-plus Americans diagnosed with the disease each year, more than 94 percent die within five years of diagnosis. One reason for this high number of deaths is a lack of effective screening tools for catching the disease early.

12 May 2011

New research sheds light on common pathogenic mechanisms underlying Huntington's disease

New research sheds light on common pathogenic mechanisms shared by Huntington's disease (HD) and HD-like disorders. The study, published by Cell Press in the May 12, 2011, issue of the journal Neuron, uses a new transgenic mouse model for an HD-like disorder to unravel complex molecular events that drive disease pathology.

12 May 2011

Sugar boosts effectiveness of first-line antibiotics against chronic bacterial infections

James Collins, a pioneering researcher in the new field of systems biology and a MacArthur Genius, says: "You know the old saying: 'a spoonful of sugar makes the medicine go down?' This is more like 'a spoonful of sugar makes the medicine work.'

12 May 2011

Genentech submits vemurafenib NDA for BRAF V600 mutation-positive metastatic melanoma

Genentech, a member of the Roche Group, today announced that the company submitted a New Drug Application for vemurafenib to the U.S. Food and Drug Administration for people with BRAF V600 mutation-positive metastatic melanoma, and that Roche submitted a Marketing Authorization Application to the European Medicines Agency for vemurafenib in the same indication.

11 May 2011

Plexxikon seeks vemurafenib marketing approval from FDA and EMA for melanoma treatment

Plexxikon Inc., a member of the Daiichi Sankyo Group, today announced that applications for market approval for vemurafenib for the treatment of metastatic melanoma have been submitted to the U.S. Food and Drug Administration and the European Medicines Agency.

11 May 2011

Zebrafish research identifies undiscovered high-risk genetic features in T-cell acute lymphocytic leukemia

Leukemia is the most common childhood cancer; it also occurs in adults. Now researchers working with zebrafish at Huntsman Cancer Institute (HCI) at the University of Utah have identified previously undiscovered high-risk genetic features in T-cell acute lymphocytic leukemia (T-ALL), according to an article published online May 9, 2011, in the cancer research journal Oncogene.

11 May 2011

Scientists unravel how genetic defects can help predict risk of sudden cardiac death

Sudden cardiac death is always a shocking, tragic event, especially when it occurs at a young age. But, for the first time, scientists are unraveling how genetic defects can help predict the risk of dying suddenly in individuals with one of the leading causes of this unfortunate phenomenon.

11 May 2011

16-year-old uses supercomputing network to invent new drug cocktail for cystic fibrosis

While many 16-year-olds are content with PlayStation, Toronto-area student Marshall Zhang used the Canadian SCINET supercomputing network to invent a new drug cocktail which could one day help treat cystic fibrosis.

11 May 2011

Researchers identify mitochondrial proteins that can affect human ageing

Mitochondria are the body's energy producers, the power stations inside our cells. Researchers at the University of Gothenburg, Sweden, have now identified a group of mitochondrial proteins, the absence of which allows other protein groups to stabilise the genome. This could delay the onset of age-related diseases and increase lifespan.

10 May 2011

Mary Ann Liebert's peer-reviewed journal highlights latest developments in ocular gene therapy

Disorders of the eye are excellent targets for gene therapy because the ocular environment is readily accessible, relatively easy to monitor, and sequestered from the rest of the body.

10 May 2011

Researchers design new tool for identifying protein function from genetic code

Mayo Clinic researchers have designed a new tool for identifying protein function from genetic code. A team led by Stephen Ekker, Ph.D., succeeded in switching individual genes off and on in zebrafish, then observing embryonic and juvenile development.

10 May 2011

Mutation News and Research

Insight into male infertility

Researchers untangle two distinct ways in which tumor-suppressor protein works

Midbrain habenula region plays a key role in nicotine dependence

New study sheds light on origins of myeloid leukemia

UCSD scientists discover steroid hormone that inhibits brain inflammation

Scientists discover enzyme that controls K-Ras gene responsible for lung cancer growth

Scientists uncover gene responsible for Adams-Oliver Syndrome

Hydroxyurea safe and effective for infants, toddlers with sickle-cell disease

McGill research team finds distinct disease-causing mutations and saves baby girl

Noninvasive stool test can detect pancreatic cancer

New research sheds light on common pathogenic mechanisms underlying Huntington's disease

Sugar boosts effectiveness of first-line antibiotics against chronic bacterial infections

Genentech submits vemurafenib NDA for BRAF V600 mutation-positive metastatic melanoma

Plexxikon seeks vemurafenib marketing approval from FDA and EMA for melanoma treatment

Zebrafish research identifies undiscovered high-risk genetic features in T-cell acute lymphocytic leukemia

Scientists unravel how genetic defects can help predict risk of sudden cardiac death

16-year-old uses supercomputing network to invent new drug cocktail for cystic fibrosis

Researchers identify mitochondrial proteins that can affect human ageing

Mary Ann Liebert's peer-reviewed journal highlights latest developments in ocular gene therapy

Researchers design new tool for identifying protein function from genetic code

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

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