February 10, 2014
Seven new genetic regions linked to type 2 diabetes
(Medical Xpress) – Seven new genetic regions associated with type 2 diabetes have been identified in the largest study to date of the genetic basis of the disease. DNA data was brought together from more than 48,000 patients and 139,000 healthy controls from four different ethnic groups. The research was conducted by an international consortium of investigators from 20 countries on four continents, co-led by investigators from Oxford University’s Wellcome Trust Centre for Human Genetics.
Are men ‘hardwired’ for violence? Brain structure, stress, and genetic influence rates of aggression
(Medical Daily) – “Behavior originates in the brain, and violence is no exception.” So begins an article by Dr. Debra Niehoff, adjunct professor in the Department of Social and Behavioral Science at Bucks County Community College, which reviews the current literature and then explains both the biologic and environmental factors that may lead to aggressive behavior on the part of both men and women. Niehoff ultimately suggests that violence is not “hardwired” into men — or certain individuals for that matter — but due to differences in brain structure and function, stress response, and genetics, they may be more vulnerable than women to factors that increase aggressive behavior.
Fate of fertilized egg: Why some embryos don’t implant
(Fox News) – Some embryos fail to implant in the womb, while others implant successfully, leading to pregnancy, and a new study sheds light on why that’s the case. In the study, researchers found that human embryos typically produce a chemical called trypsin, which signals the womb to prepare its lining for implantation. But in embryos with significant genetic abnormalities, this chemical signal was altered, and it produced a stress response in the womb that could make implantation unlikely, the researchers said.
February 7, 2014
Big pharma shows signs of renewed interest in RNAi drugs
(Nature) – The 1998 discovery of the technique known as RNA interference (RNAi) set off a race among drug and biotech companies to harness the power of RNA silencing for therapeutic purposes. But that momentum appeared to grind to a halt recently when several major pharmaceutical companies began abandoning RNAi, which uses short snippets of RNA to selectively silence the expression of specific genes. The Swiss drug giant Roche, for example, announced in November 2010 that it was ending all RNAi work after it had already invested more than $500 million on the technology; in February 2011, New York’s Pfizer followed suit, shuttering its RNAi drug discovery program.
(The Economist) – Fixing a body’s broken genes is becoming possible. It sounds like science fiction, and for years it seemed as though it was just that: fiction. But the idea of gene therapy—introducing copies of healthy genes into people who lack them, to treat disease—is at last looking as if it may become science fact.
February 6, 2014
A New Edition of The Journal of the American Medical Association is Available
The Journal of the American Medical Association (Volume 311, No. 5, February 5, 2014) is now available online by subscription only.
- “2013 ACC/AHA Guideline on the Treatment of Blood Cholesterol: A Fresh Interpretation of Old Evidence” by Bruce M. Psaty and Noel S. Weiss
- “More Than a Billion People Taking Statins?: Potential Implications of the New Cardiovascular Guidelines” by John P. A. Ioannidis
- “Patient-Centered and Practical Application of New High Cholesterol Guidelines to Prevent Cardiovascular Disease” by Victor M. Montori, Juan P. Brito, and Henry H. Ting
- “Matchbox Cars” by Charles G. Kels
- “New Method Detects Genetic Defects in Egg Cells” by Tracy Hampton
Pain ‘dimmer switch’ discovered by UK scientists
(BBC) – Pain sensitivity is controlled by a genetic “dimmer switch”, which can be re-set, UK scientists have discovered. Twins sharing 100% of genes have different pain thresholds, which can potentially be altered by lifestyle or medication, say researchers at King’s College, London. The study could lead to new painkillers or lifestyle interventions, they report in Nature Communications.
February 5, 2014
The genetics of developmental disabilities
(San Francisco Gate) – On April 14, 2003 the National Human Genome Research Institute (NHGRI), the Department of Energy (DOE) and their partners in the International Human Genome Sequencing Consortium announced the successful completion of the Human Genome Project. What has this project help us understand the genetics of developmental disabilities? I asked Genetics Counselor Kim Barr of Kaiser Permanente to answer this and other questions about the genetics of autism and other developmental disabilities.
Case report on genetic diagnosis of fatal disorder in embryos before pregnancy
(Medical Xpress) – Genetic testing of embryos for a fatal inherited neurodegenerative disorder allowed a woman to selectively implant two mutation-free embryos and conceive healthy twins, what researchers call the first case of in vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD) to prevent genetic prion disease in children, according to a case report in JAMA Neurology by Alice Uflacker, M.D., of Duke University, Durham, N.C., and colleagues.
February 4, 2014
Ethics questions arise as genetic testing of embryos increases
(New York Times) – Genetic testing of embryos has been around for more than a decade, but its use has soared in recent years as methods have improved and more disease-causing genes have been discovered. The in vitro fertilization and testing are expensive — typically about $20,000 — but they make it possible for couples to ensure that their children will not inherit a faulty gene and to avoid the difficult choice of whether to abort a pregnancy if testing of a fetus detects a genetic problem.
Chemical stem cell signature predicts treatment response for acute myeloid leukemia
(Medical Xpress) – Researchers at Albert Einstein College of Medicine of Yeshiva University and Montefiore Medical Center have found a chemical “signature” in blood-forming stem cells that predicts whether patients with acute myeloid leukemia (AML) will respond to chemotherapy. The findings are based on data from nearly 700 AML patients. If validated in clinical trials, the signature would help physicians better identify which AML patients would benefit from chemotherapy and which patients have a prognosis so grave that they may be candidates for more aggressive treatments such as bone-marrow transplantation.
February 3, 2014
Seeking the genetic underpinnings of lupus
(Medical Xpress) – Lupus is one of the most enigmatic of diseases. It can take years to diagnose, marked as it is by a laundry list of seemingly unrelated symptoms: fever, fatigue, rashes, hair loss, sensitivity to light, seizures and even psychosis. Nearly 2 million Americans have some form of lupus, an autoimmune disorder, that is, one in which the immune system wages war on the body’s own cells and tissues. More than 90 percent of those who suffer from it are women—and there is no cure.
January 31, 2014
Give the gift of life by donating your medical records
(New Scientist) – Those of us who work with medical research charities already know how generous the public is when it comes to helping others. Those charities are now asking supporters to consider making a new gift – one that requires no opening of the wallet or giving of blood or other tissue. They want you to donate the information in your medical records.
Tricking cancer cells into suicide
(Times of India) – Trick cancer cells into committing suicide — that’s the new ploy in gene therapy and a team of scientists in Chennai have waded into it, looking for a cure for eye cancer in children. ‘Suicide gene therapy’ is a method of introducing genetic material into cancerous tumours and then ensuring the programmed death of the cells. It is not a standard treatment method for cancer but scientists across the world are working on it and finding encouraging results.
A New Edition of The Journal of Law, Medicine & Ethics is Available
The Journal of Law, Medicine & Ethics (Volume 41, No. 4, Winter 2013) is now available online by subscription only.
- “Is Inclusive Education a Human Right?” by John-Stewart Gordon
- “Disability and Capability: Exploring the Usefulness of Martha Nussbaum’s Capabilities Approach for the UN Disability Rights Convention” by Caroline Harnacke
- “Human Rights, Civil Rights: Prescribing Disability Discrimination Prevention in Packaging Essential Health Benefits” by Anita Silvers and Leslie Francis
- “Disability, ‘Being Unhealthy,’ and Rights to Health” by Jerome Bickenbach
- “Subversive Subjects: Rule-Breaking and Deception in Clinical Trials” by Rebecca Dresser
- “Another Look at the Legal and Ethical Consequences of Pharmacological Memory Dampening: The Case of Sexual Assault” by Jennifer A. Chandler, et al.
- “Adherence to the Request Criterion in Jurisdictions Where Assisted Dying Is Lawful? A Review of the Criteria and Evidence in the Netherlands, Belgium, Oregon, and Switzerland” by Penney Lewis and Isra Black
- “Predictive Genetic Testing of Children and the Role of the Best Interest Standard” by Lainie Friedman Ross
January 29, 2014
Seminal fluid key to offspring health
The health of a male’s seminal fluid can affect his fertility and how fat his adult offspring grows, a new study in mice has found. If the same thing applies in humans, the study could help explain how obesity is transmitted between generations and may shed light health issues in IVF children, says Professor Sarah Robertson of the Robinson Institute at the University of Adelaide. (ABC.net)
Scientists succeed in manipulating stem cells into liver and pancreas precursor cells
Scientists from the Genome Institute of Singapore (GIS) in A*STAR have developed a novel method of directing human pluripotent stem cells (hPSCs) into highly pure populations of endoderm, a valuable cell type that gives rise to organs including the liver and pancreas. These cells are highly sought-after for therapeutic and biotechnological purposes, but have been historically difficult to attain from hPSCs. The ability to generate pure endoderm at higher yields from hPSCs is a key and important step towards the use of stem cells in clinical applications. (Phys.org)
Permanent changes in brain genes may not be so permanent after all
In normal development, all cells turn off genes they don’t need, often by attaching a chemical methyl group to the DNA, a process called methylation. Historically, scientists believed methyl groups could only stick to a particular DNA sequence: a cytosine followed by a guanine, called CpG. But in recent years, they have been found on other sequences, and so-called non-CpG methylation has been found in stem cells, and in neurons in the brain. (Health News Digest)
January 28, 2014
A genetic “Minority Report”: How corporate DNA testing could put us at risk
There is another aspect of 23andMe’s business, one which has received less attention from the media (with the exception of an excellent writeup in Scientific American by Charles Seife), but which is, in actuality, both equally troubling and equally fascinating. The company also houses a sizable research wing. 23andMe intends to aggregate the genetic information it receives and correlate that information with self-supplied data from customers about their biological traits – for instance, whether they clasp their hands with left thumb over right or vice versa; whether black coffee tastes bitter to them; or, more seriously, whether they have Parkinson’s disease. (Salon)
January 27, 2014
California’s stem cell agency poised to bet big on genomics research
The state of California is preparing to make a bet of up to $40 million on a fast-moving field that promises to revolutionize medicine and ultimately lead to personalized stem cell treatments that can be tailored for a patient’s genetic makeup. Directors of the California stem cell agency are meeting in Berkeley on Wednesday to create one or two stem cell genomic centers that they predict will make the state a world leader in the new field. Scientists and businesses from biotech centers in the Bay Area, San Diego and elsewhere are competing for the money. (Sacramento Bee)
January 24, 2014
Chinese and American researchers introduce new approach to gene therapy
Resistance of tumor cells toward multiple cytostatic drugs is a serious problem in cancer treatment. In the journal Angewandte Chemie, a team of Chinese and American researchers has now introduced a new approach to gene therapy that could counter this problem: The gene that codes for resistance is “silenced” through the use of an ingenious nanocomplex. (News-Medical)