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March 27, 2014

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.

March 21, 2014

A New Edition of The New England Journal of Medicine is Available

The New England Journal of Medicine (Volume 370, No. 9, February 27, 2014) is now available online by subscription only.

Articles include:

  • “Preventing and Controlling Influenza with Available Interventions” by T.M. Uyeki
  • “Enterovirus Vaccines for an Emerging Cause of Brain-Stem Encephalitis” by P.C. McMinn
  • “Pancreatic Safety of Incretin-Based Drugs — FDA and EMA Assessment” by A.G. Egan, et al.
  • “DNA Sequencing versus Standard Prenatal Aneuploidy Screening” by D.W. Bianchi, et al.
  • “Beyond Malaria — Causes of Fever in Outpatient Tanzanian Children” by V. D’Acremont, et al.
  • “Efficacy, Safety, and Immunogenicity of an Enterovirus 71 Vaccine in China” by F. Zhu, et al.
  • “An Inactivated Enterovirus 71 Vaccine in Healthy Children” by R. Li, et al.
  • “Attention Deficit–Hyperactivity Disorder in Children and Adolescents” by H.M. Feldman and M.I. Reiff
  • “Screening for Trisomies in Circulating DNA” by M.F. Greene and E.G. Phimister

A New Edition of Journal of Law and the Biosciences is Available

Journal of Law and the Biosciences (Volume 1, No. 1, March 2014) is now available online by subscription only.

Articles include:

  • “Towards an ethics safe harbor for global biomedical research” by Edward S. Dove, et al.
  • “Public preferences and the challenge to genetic research policy” by Rebecca Dresser
  • “The regulation of cognitive enhancement devices: extending the medical model” by Hannah Maslen, et al.
  • “A review of the key issues associated with the commercialization of biobanks” by Timothy Caulfield, et al.

Mugshots Built from DNA Data

(Nature) – Leaving a hair at a crime scene could one day be as damning as leaving a photograph of your face. Researchers have developed a computer program that can create a crude three-dimensional (3D) model of a face from a DNA sample. Using genes to predict eye and hair colour is relatively easy. But the complex structure of the face makes it more valuable as a forensic tool — and more difficult to connect to genetic variation, says anthropologist Mark Shriver of Pennsylvania State University in University Park, who led the work, published today in PLOS Genetics.

Study Provides Better Understanding of Why Chromosome Errors Are High in Women’s Eggs

(News-Medical) – A new study from the University of Southampton has provided scientists with a better understanding of why chromosome errors are high in women’s eggs. It is estimated that up to 60 per cent of eggs are affected by errors in how their chromosomes divide, making it the leading cause of infertility. Chromosome errors also lead to conditions such as Down Syndrome and early pregnancy loss.

Psychiatric Genetics Holds Great Promise

(Psychiatric News) – During the past five years or so, the field of psychiatric genetics has exploded, experts in the field concur. Whereas only a handful of gene variants that contribute to psychiatric illnesses had been identified before 2008, now close to 200 have, Jordan Smoller, M.D., Sc.D., a professor of psychiatry at Harvard Medical School and a psychiatric genetics expert, said in an interview. “They range from common variations that affect gene expression to rare variations in genes themselves to copy number variations that result in the deletion or duplication of chunks of DNA.”

March 20, 2014

The Genetics of Frontotemporal Dementia

(Medical Xpress) – Prof Pickering-Brown and his team are investigating a gene called C9orf72, which has been implicated in the development of frontotemporal dementia (FTD). This relatively rare form of dementia, which usually affects people under 65, causes distressing symptoms including personality and behavioural changes, loss of ability to reason, and problems with language.

IBM’s Watson Attempts to Tackle the Genomics of Brain Cancer

(Forbes) – This morning, IBM and the New York Genome Center announced a partnership to test whether Watson, the computer that won on Jeopardy, can sift through the genomes of cancer patients and help doctors pick drugs. This effort could hold the key to making DNA sequencing for cancer affordable, but there is a vast amount of work to do that will take years at a minimum.

‘Nano-Flares’ Catch Breast Cancer before It Spreads: Can Breakthroughs in Nanotechnology Block Metastasis?

(Medical Daily) – Breakthroughs in nanotechnology may help physicians spot the spread of breast cancer before it takes root in neighboring organs and tissue, providing an effective preventive strategy against the disease that kills nearly 40,000 American women each year. Dr. Chad Mirkin, a researcher at Northwestern University and one of the developers of the new technology, said in a press release that the innovation can help physicians spot red flags on an early cellular level.

March 19, 2014

Mom Sues for Wrongful Pregnancy after Failed Sterilization

(ABC News) – An Illinois woman is suing her doctor for “wrongful pregnancy,” claiming a botched tubal ligation led to the birth of a daughter with sickle cell disease. Cynthia Williams, a 40-year-old mother of three, only had one ovary and believed she couldn’t get pregnant because the tube tethering it to her womb had been tied –- or so she thought.

Two Premier Legue Clubs Sign Up with Top Genetics Company to Learn DNA Profiles of Players

(Daily Mail) – Two Barclays Premier League football clubs have commissioned tests of their players’ DNA, with an expert predicting genetic profiling will become ‘routine’ in elite sport over the next few years. It is claimed a simple swab test can determine an athlete’s power and endurance capacity, whether they are particularly prone to injury and what diet best suits their genes. British company DNAFit are already working with two top-flight English clubs as well as a ‘leading’ European side and Britain’s former 800 metres indoor world champion Jenny Meadows, the first athlete to reveal her DNA profile.

Researcher Discovers Genetic Mutation in Moroccan Jews

(Sun Sentinel) – This phenomenon, known as Progressive Cerebro-Cerebellar Atrophy (PCCA), affects dozens of Israeli families of Iraqi and Moroccan-Jewish descent. But thanks to the team of Dr. Ohad Birk, head of the Genetics Institute at Soroka Medical Center in the southern Israeli city of Be’er Sheva and The Morris Kahn Lab of Human Genetics at Ben-Gurion University of the Negev (BGU), that number may soon be reduced.

March 18, 2014

A Tumor, the Embryo’s Evil Twin

(New York Times) – Rough similarities between the growth of a tumor and the gestation of an embryo were first suggested more than a century ago. But no one could have guessed that the parallels would turn out to be so precise. Consider the gene SHH. The name is short for sonic hedgehog. (Hedgehog genes were discovered in fruit flies and when mutated they cause the larvae to be covered with a profusion of bristles.) In a human embryo, sonic hedgehog is involved with establishing the bilateral symmetry of the brain, skeleton and other organs. Later in life it can run amok, interacting with genes like SMO (for smoothened — another fruit fly derivation) to bring on a human brain cancer called medulloblastoma and a skin cancer called basal cell carcinoma.

His Fertility Advance Draws Ire

(New York Times) – With a name that most Americans can’t pronounce (it is Shoe-KHRAHT Mee-tuhl-EE-pov) and an accent that sounds like the villain’s in a James Bond film, Dr. Mitalipov, 52, has shaken the field of genetics by perfecting a version of the world’s tiniest surgery: removing the nucleus from a human egg and placing it into another. In doing so, this Soviet-born scientist has drawn the ire of bioethicists and the scrutiny of federal regulators.

Famous Breast Cancer Gene Could Affect Brain Growth

(Science) – The cancer gene BRCA1, which keeps tumors in the breast and ovaries at bay by producing proteins that repair damaged DNA, may also regulate brain size. Mice carrying a mutated copy of the gene have 10-fold fewer neurons and other brain abnormalities, a new study suggests. Such dramatic effects on brain size and function are unlikely in human carriers of BRCA1 mutations, the authors of the study note, but they propose the findings could shed light on the gene’s role in brain evolution.

China Bans Genetic Testing

(Genetic Engineering & Biotechnology News) – For nearly a half-century, interrupted only by the Cultural Revolution, China promoted the growth of genetic testing to prevent and address birth defects through state-run hospitals, as well as charities and increasingly in recent years, private enterprises. Then last month, China reversed course. The China Food and Drug Administration posted a new regulation that immediately banned genetic testing—even previously approved services “including prenatal genetic testing, gene sequencing technology-related products, and cutting-edge products and technologies.”

HIV ‘Gene Hack’ Offers New Treatment Hope

(Nursing Times) – “HIV gene therapy using GM cells hailed a success after trial,” reports The Guardian, while the BBC tells us that an “immune upgrade” could offer “HIV shielding”. These headlines come following a small trial that examined whether it was safe to inject genetically modified white blood cells into people with HIV. This was achieved, but the study did not show whether HIV could actually be treated. This was the first human trial for the technique and involved 12 people that already had HIV.


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