Mutation News and Research

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New genetic screening program for families at high risk of colorectal cancer

UT Southwestern Medical Center has developed a new lifesaving genetic screening program for families at high risk of contracting colorectal cancer, a deadly yet highly preventable form of cancer.

2 Sep 2011

Pemetrexed treatment produces better outcomes in ALK-translocated NSCLC patients

Patients with ALK-rearranged non-small cell lung cancer (NSCLC) responded significantly better to pemetrexed than patients whose cancer did not show ALK translocation, according to research published in the September issue of the Journal of Thoracic Oncology, the official publication of the International Association for the Study of Lung Cancer.

2 Sep 2011

Walnut-containing diet could reduce risk of breast cancer

The risk of breast cancer dropped significantly in mice when their regular diet included a modest amount of walnut, Marshall University researchers report in the journal Nutrition and Cancer.

2 Sep 2011

UTHealth inaugurates new center for autoimmune and inflammatory diseases research

The University of Texas Health Science at Houston (UTHealth) announced the opening of a center devoted to researching and treating diseases associated with malfunctioning immune systems.

2 Sep 2011

Two ALS-associated genes work in tandem to support long-term survival of motor neurons

Although several genes have been linked to amyotrophic lateral sclerosis (ALS), it is still unknown how they cause this progressive neurodegenerative disease. In a new study, Columbia University Medical Center (CUMC) researchers have demonstrated that two ALS-associated genes work in tandem to support the long-term survival of motor neurons.

2 Sep 2011

LCA applauds FDA approval of Xalkori for ALK positive non-small cell lung cancer

Lung Cancer Alliance (LCA) applauds the Food and Drug Administration (FDA) approval of Xalkori (crizotinib) with non-small cell lung cancer (NSCLC) who are ALK positive. The drug was approved based on data from two clinical trials, both of which showed a significant increase in overall survival.

2 Sep 2011

Tamiflu resistant flu found in Newcastle, Australia

The influenza pandemic has gathered a lot of action, advice and coverage over the last few years. In 2009, an international H1N1 influenza pandemic led to concerns that there would be a repeat of the 1918 influenza pandemic which resulted in millions of deaths worldwide. The World Health Organization recorded over 37,000 cases of the H1N1 pandemic influenza in Australia and 193 confirmed deaths.

2 Sep 2011

MRSA ‘superbug’: Everyone at risk!

Methicillin-resistant Staphylococcus aureus (MRSA), a type of staph bacteria that does not respond to commonly used antibiotic treatments, is a type of infection that has been a problem in hospital settings for many years. Back in 2000 it began steadily making its way into the lives of otherwise healthy people, especially children, who are not typically at risk for the fast-moving bacteria.

2 Sep 2011

Older dads have a higher risk of having kids with mental disorders: Study

According to a new study children of older fathers have genetic changes associated with autism and other brain disorders. As of now this is seen only in lab mice. Professor John McGrath of the Queensland University’s Brain Institute and colleagues report their findings today in the journal Translational Psychiatry.

31 Aug 2011

Stanford method identifies essential regions of Caulobacter's genome

A team at the Stanford University School of Medicine has cataloged, down to the letter, exactly what parts of the genetic code are essential for survival in one bacterial species, Caulobacter crescentus.

31 Aug 2011

DNA sequencing pioneer, two pharmaceutical researchers recognized as ACS 'Heroes of Chemistry'

Two scientists developed a new drug that helped pioneer the era of "personalized medicine" for cancer patients, an approach in which one-size-fits-all drugs yield to medicines customized to the genetic endowment of individual patients. Another scientist invented today's predominant technology for genetic sequencing, deciphering the genetic blueprint in the DNA that makes up the genes of living things.

30 Aug 2011

New chemical compounds show promise against set of protein-folding diseases

Collaborating researchers at Stanford University and The Scripps Research Institute have identified chemical compounds that show promise as potential therapeutics for a set of medical conditions caused by the abnormal clumping together of a protein known as transthyretin.

30 Aug 2011

New insights into Lafora disease

Short-term energy storage in animal cells is usually achieved through the accumulation of glucose, in the form of long and branched chains, known as glycogen. But when this accumulation happens in neurons it is fatal, causing them to degenerate. This neuronal deterioration and death associated with glycogen accumulation is the hallmark of an extremely rare and progressive type of epilepsy known as Lafora disease (LD).

29 Aug 2011

Individuals with BAP1 gene mutation more likely to develop mesothelioma

Scientists have found that individuals who carry a mutation in a gene called BAP1 are susceptible to developing two forms of cancer - mesothelioma, and melanoma of the eye.

29 Aug 2011

LUNGevity Foundation applauds FDA's recent approval of XALKORI lung cancer drug

LUNGevity Foundation applauds the US Food and Drug Administration's (FDA) recent approval of XALKORI (crizotinib) to treat lung cancer. The drug, introduced by Pfizer, Inc. showed such promise in early trials that it was given "fast track" status by the FDA.

29 Aug 2011

Severe combined immunodeficiency treated successfully with gene therapy

Gene therapy can offer a cure for a rare condition that causes children’s immune systems to fail. In this rare condition, known as Severe Combined Immunodeficiency (SCID), inherited genetic mutations mean that babies are unable to fight off infection, severely limiting their chances of surviving more than a few years. Severe combined immunodeficiency (SCID) is a rare genetic disorder estimated to affect between 1 in 200,000 and 1 in 1,000,000 live births

26 Aug 2011