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April 7, 2014

Amino Acid Fingerprints Revealed in New Study

( – Now, Stuart Lindsay and his colleagues at Arizona State University’s Biodesign Institute have taken a major step in this direction, demonstrating the accurate identification of amino acids, by briefly pinning each in a narrow junction between a pair of flanking electrodes and measuring a characteristic chain of current spikes passing through successive amino acid molecules.

Genetic Testing to Predict Menopause

(The Sydney Morning Herald) – A genetic test to predict the start of menopause is likely to be available within five years, allowing women to make more informed decisions about their health and fertility, a leading expert says. Professor of Reproductive Medicine and Gynaecology at University Medical Centre in the Netherlands, Bart Fauser, said given menopause could begin at very different ages, including before 40 years for about one in 100 women, a test to more precisely predict the timing would be extremely useful, especially for women wanting children.

April 3, 2014

Pharmocogenomics Has Not Fulfilled Its Promise to Developing Countries

(Science Daily) – From 1997 to 2010, despite promises made by the international scientific community, pharmacogenomic research produced few studies focusing on rare, orphan and tropical diseases prevalent in developing countries. Catherine Olivier, bioethics research at the University of Montreal’s School of Public Health, recently published these findings in the journal Global Public Health.

Gene Therapy Improves Limb Function Following Spinal Cord Injury

(Medical Xpress) – Delivering a single injection of a scar-busting gene therapy to the spinal cord of rats following injury promotes the survival of nerve cells and improves hind limb function within weeks, according to a study published April 2 in The Journal of Neuroscience. The findings suggest that, with more confirming research in animals and humans, gene therapy may hold the potential to one day treat people with spinal cord injuries.

Smallest DNA Origami Nanorobot Yet Has a Switchable Flap

(Nanowerk) – In what is the smallest 3D DNA origami box so far, researchers in Italy have now fabricated a nanorobot with a switchable flap that, when instructed with a freely defined molecular message, can perform a specifically programmed duty. Slightly larger nanocontainers with a controllable lid have already been demonstrated by others to be suitable for the delivery of drugs or molecular signals, but this new cylindrical nanobot has an innovative opening mechanism.

April 2, 2014

Epigenetics Starts to Make Its Mark

(Nature) – Methylation — the addition of methyl groups — tends to suppress the activity of genes. It is important in development, when it helps to guide the differentiation of embryonic stem cells into specialized tissues by orchestrating the expression of genes. But it also occurs in response to environmental changes, and these gene modifications may be inherited. They may also contribute to conditions such as cancer and type 2 diabetes.

US Doctors’ Group Says Patients Should Have Option Not to Know Their DNA

(Nature) – The issue of genetic sequencing raises thorny issues of ethics and patient-doctor communication. If a patient chooses to opt out of testing for that recommended list of mutations does she or he really understand what that decision means? Was the physician able to make the significance of the mutations clear in a relatively short appointment? But patients are currently afforded the opportunity to opt out of life-saving procedures, so why should opting out of information about possible genetic mutations be any different? The ACMG board, which put forth this new decision, is implicitly stating that it isn’t.

April 1, 2014

Scientists Discover Novel Genetic Defects which Cause Oesophageal Cancer

(Medical Xpress) – Latest findings by a team of international scientists led by Singapore-based researchers reveal the genomic landscape of oesophageal squamous carcinoma. A team of scientists from the Cancer Science Institute of Singapore (CSI Singapore) at the National University of Singapore and National University Cancer Institute Singapore (NCIS), and their collaborators from the Cedars-Sinai Medical Centre, UCLA School of Medicine, demonstrated that a number of novel genetic defects are able to induce oesophageal cancer.

March 31, 2014

Skin Cancer: Genetic Mutations ‘Warn of Risk’

(BBC) – Scientists say they have taken a step forward in understanding why some people are at greater risk of skin cancer because of their family history. A newly identified gene mutation causes some cases of melanoma, a type of skin cancer, says a UK team. The discovery will pave the way for new screening methods, they report in Nature Genetics.

Genetic Variation Linked to Heart Disease Risk through RNA Machinery

(Medical Xpress) – Researchers have pinpointed a new mechanism of how natural variation in our DNA alters an individual’s risk for developing heart disease by interfering with the ability of a developmental gene to interact with a specialized type of RNA. This work expands on previous work identifying the “hidden” causes of complex disease risk, with the goal of unlocking new pathways and potential drug targets for cardiovascular disease.

Genetic Screening to Enhance IQ Should Be Embraced

(The Conversation) – There could be a way of predicting – and preventing – which children will go on to have low intelligence, according to the findings of a study researchers at Cardiff University presented on Monday. They discovered that children with two copies of a common gene (Thr92Ala), together with low levels of thyroid hormone are four times more likely to have a low IQ. This combination occurs in about 4% of the UK population.

March 28, 2014

Tumor Suppressor Gene Linked to Stem Cell Function

(News-Medical) – Just as archeologists try to decipher ancient tablets to discern their meaning, UT Southwestern Medical Center cancer biologists are working to decode the purpose of an ancient gene considered one of the most important in cancer research. The p53 gene appears to be involved in signaling other cells instrumental in stopping tumor development. But the p53 gene predates cancer, so scientists are uncertain what its original function is.

Blood Test Could Predict Obesity in Children

(UPI) – Obesity is often the product environmental factors: a poor diet and not enough exercise. But people are also — to varying degrees — predisposed to obesity. Recently, researchers at the Universities of Southampton, Plymouth and Exeter figured out a way to test for obesity. A simple blood test can measure the levels of epigenetic switches in the PGC1a gene — the gene that governs the body’s fat storage.

Gene Therapy’s Big Comeback

(Forbes) – The once abandoned gene therapy field has become a hotbed, with 11 different companies raising at least $618 million from venture capitalists and the public markets since the beginning of 2013, and one more, AGTC, plans a $50 million initial public offering soon. Top venture capital firms are among their backers, and some of the industry’s top talent is being attracted to what was once seen as a lost cause. The iShares Nasdaq Biotechnology Index is up 65% in 12 months.

March 27, 2014

What’s Next in Prenatal Genetic Testing?

(Medscape) – At the Future of Genomic Medicine VII conference in March 2014, leading experts in genomic research and clinical application discussed the expanding influence of genomics on the practice of medicine. Medscape asked Jay A. Shendure, MD, PhD, Associate Professor of Genome Sciences at the University of Washington in Seattle, to offer insight on how the advent of noninvasive genetic testing has influenced prenatal assessments and what might be next on the horizon in the field of reproductive medicine.

Gene Implicated in Progression and Relapse of Deadly Breast Cancer

(Weill Cornell Newsroom) – Scientists from Weill Cornell Medical College and Houston Methodist have found that a gene previously unassociated with breast cancer plays a pivotal role in the growth and progression of the triple negative form of the disease, a particularly deadly strain that often has few treatment options. Their research, published in this week’s Nature, suggests that targeting the gene may be a new approach to treating the disease.

Team Issues State-of-the-State on Genetic-Based Testing and Treatment for Breast cancer

(Medical Xpress) – Dartmouth researchers at its Norris Cotton Cancer Center have compiled a review of the role that information gathered through genetic testing plays in the diagnosis and treatment of breast cancer. The paper entitled “Personalized Therapy for Breast Cancer” was accepted on March 17, 2014, for publication in Clinical Genetics. The paper discusses targeted therapies, new biomarkers, and the quality of commercially available testing methods.

March 26, 2014

Study Discovers Genetic Cause of Rare Type of Ovarian Cancer

(Medical Xpress) – The cause of a rare type of ovarian cancer that most often strikes girls and young women has been uncovered by an international research team led by the Translational Genomics Research Institute (TGen), according to a study published online today by the renowned scientific journal, Nature Genetics.

Novel HF Therapy by Micro-RNA Blockade: Proof of Concept

(Medscape) – A future generation of therapies for heart failure could depend on disruption of micro-RNA–mediated genetic machinery that affects cardiac myocyte structure and contractility. In a study primarily in mice but also in tissue from human failing hearts, injection of a tiny nucleotide that blocks a micro-RNA regulator of cellular calcium transport appeared to stem the progression of induced heart failure in the animal model.

Researchers Discover Underlying Genetics, Marker for Stroke, Cardiovascular Disease

(Medical Xpress) – Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke, and have also uncovered new details about an important metabolic pathway that plays a major role in several common diseases. Together, their findings may provide new clues to underlying genetic and biochemical influences in the development of stroke and cardiovascular disease, and may also help lead to new treatment strategies.

Genetic Evidence for Single Bacteria Cause of Sepsis Identified for the First Time

(Science Codex) – An international team of academics, including Professor Marco Oggioni from the University of Leicester’s Department of Genetics, has studied how localised infections can turn into the dangerous systematic disease sepsis – and has identified for the first time through genetic evidence that a single bacteria could be the cause.


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