February 24, 2014
Is genetic testing humans playing God?
(CNN) – “It’s a miracle,” she told me. “We can now have a baby that won’t have Huntington’s disease. I thought I’d never be able to have any kids — because of the disease.” Her father had died from this disorder, which results from a gene mutation. She feared that she might have the mutation, too. But she was too scared to undergo testing for it. She also worried that if she had it, she might pass it on to her children.
February 21, 2014
DNA prostate test ‘will predict deadliest cancer risk’
(BBC) – DNA testing can predict which men face the highest risk of deadly prostate cancer, scientists say. The team at the Institute of Cancer Research, in London, say men could soon be offered genetic screening in a similar way to breast cancer in women. They have shown 14 separate mutations can greatly increase the odds of aggressive prostate cancers, which could form the basis of a test.
February 20, 2014
A New Edition of Journal of Medical Ethics is Available
Journal of Medical Ethics (Volume 40, No. 3, March 2014) is now available online by subscription only.
- “Responding to complexity” by Kenneth Boyd
- “Imposing options on people in poverty: the harm of a live donor organ market” by Simon Rippon
- “Organ sales and paternalism” by Gerald Dworkin
- “Live liver donation, ethics and practitioners: ‘I am between the two and if I do not feel comfortable about this situation, I cannot proceed’” by Elin H Thomas, et al.
- “What ethical and legal principles should guide the genotyping of children as part of a personalised screening programme for common cancer?” by Alison Elizabeth Hall, et al.
- “Disclosure ‘downunder’: misadventures in Australian genetic privacy law” by Wendy Bonython and Bruce Arnold
- “Attitudes towards euthanasia in Iran: the role of altruism” by Naser Aghababaei
- “Discovering misattributed paternity in genetic counselling: different ethical perspectives in two countries” by Pamela Tozzo, et al.
- “In need of remedy: US policy for compensating injured research participants” by Elizabeth R Pike
- “The acceptability among young Hindus and Muslims of actively ending the lives of newborns with genetic defects” by Shanmukh Kamble, et al.
- “Cultural explanations and clinical ethics: active euthanasia in neonatology” by Ayesha Ahmad
- “The best interests of persistently vegetative patients: to die rather that to live?” by Tak Kwong Chan and George Lim Tipoe
A powerful and undetectable new kind of doping may be happening at the Olympics
(Business Insider) – “The world may be about to watch one of its last Olympic Games without genetically enhanced athletes,” wrote H. Lee Sweeney, a professor at the University of Pennsylvania School of Medicine. Time to cherish the old-fashioned athletes of Sochi? It might be too late. Sweeney actually penned that warning a decade ago, in a Scientific American article exploring a little-known practice called gene doping. In 2004, gene doping was not yet a real risk. But now? The technology has advanced, and authorities have reason to be concerned.
How gene therapy targest liver cells [video]
(Scientific American) – Advances in gene therapy over the past 15 years are finally allowing investigators to safely treat a growing number of carefully selected patients with a broad range of defective or missing genes, as reported by Ricki Lewis in the March issue of Scientific American. One of the biggest obstacles researchers have learned to overcome is the immune system’s propensity to over-react when thousands of copies of the stripped-down viruses carrying normal genes are injected into the body, mistakenly treating them as foreign invaders.
The genetics of being a daredevil
(New York Times) – Watching participants in slopestyle and half-pipe skiing and snowboarding flip, curl, cartwheel and otherwise contort themselves in the air during the Winter Olympics competition, many of us have probably wondered not only how the athletes managed to perform such feats but also why. Helpfully, a recent study of the genetics of risk-taking intimates that their behavior may be motivated, at least in part, by their DNA.
Genetically altered stem cells generate engineered cartilage
(Genetic Engineering & Biotechnology News) – Duke University researchers say they have moved a step closer to being able to generate replacement cartilage where it’s needed in the body by combining a synthetic scaffolding material withgene delivery methods. Initiating tissue repair with stem cells usually requires the use of large amounts of growth factors. Experience has demonstrated that this is expensive and can be challenging once the developing material is implanted within a body.
February 19, 2014
Breeding out breast cancer risk: A step too far?
(ABC News) – Breast cancer is the latest disease being bred out of families through preimplantation genetic diagnosis – an embryo screening test once reserved for fatal genetic disorders. The test, dubbed PGD, uses a single cell to scour the DNA for genetic typos during the in vitro fertilization process. Embryos with disease-causing mutations are then discarded in favor of their genetically superior siblings.
February 17, 2014
Scientific racism’s long history mandates caution
(Phys.org) – Racism as a social and scientific concept is reshaped and reborn periodically through the ages and according to a Penn State anthropologist, both medical and scientific researchers need to be careful that the growth of genomics does not bring about another resurgence of scientific racism. “What we are facing is a time when genomic knowledge widens and gene engineering will be possible and widespread,” said Nina Jablonski, Distinguished Professor of Anthropology. “We must constantly monitor how this information on human gene diversity is used and interpreted. Any belief system that seeks to separate people on the basis of genetic endowment or different physical or intellectual features is simply inadmissible in human society.”
Families hope ‘Frankenstein science’ lobby will not stop gene cure for mitochondrial disease
(The Guardian) – It is a grim scenario. However, hopes of tackling mitochondrial disease will be raised in a few weeks when the government announces regulations that will permit the use of an IVF technique that should rid affected families of the disorder. If these plans are approved by parliament, Britain will become the first nation to permit germ-line gene therapy, which will change the DNA of future generations in order to eradicate the condition.
Discovery may help explain mystery of ‘missing’ genetic risk
(Medical Xpress) – But the major new study, published today (Thursday) in the journal PLOS Genetics, shows for the first time in cancer that some common genetic variants could actually be indicators of the presence of much more influential rare mutations that have yet to be found. Scientists at The Institute of Cancer Research, London, led an international consortium made up of more than 25 leading academic institutions on the study, which was funded by the European Union.
DNA sequencing of IVF embryos
(MIT Technology Review) – A reproductive clinic in New Jersey is testing whether DNA sequencing can help make in vitro fertilization less risky. In the trial, researchers will use DNA sequencing to count the number of chromosomes in each of the embryos they create by fertilizing a woman’s eggs in a dish. An abnormal number of chromosomes is the most common reason for IVF to fail, experts say, and as many as 30 percent of fertilized human eggs have such abnormalities. By selecting only those embryos with the normal number of chromosomes to transfer into the uterus, doctors hope to improve the success rate of IVF.
New research funding puts Rett Syndrome cure on the horizon
(Business Standard) – Researchers from Scotland and the US are taking a step towards reversing the effects of Rett Syndrome, a debilitating genetic disease affecting very young children in large numbers worldwide. Scientists from the University of Glasgow have been awarded USD 1.6 million to work together with three research institutes in the US to develop treatments for Rett Syndrome, a profoundly disabling condition that has commonalities with autism spectrum disorders.
February 13, 2014
A New Edition of Genetics in Medicine is Available
Genetics in Medicine (Volume 16, No. 2, February 2014) is now available online by subscription only.
- “Next-generation carrier screening” by Mark A. Umbarger, et al.
- “Understanding of informed consent by parents of children enrolled in a genetic biobank” by Jennifer Klima, et al.
- “Medical management adherence as an outcome of genetic counseling in a pediatric setting” by Sarah Rutherford, et al.
- “Frequency of Prader–Willi syndrome in births conceived via assisted reproductive technology” by June-Anne Gold, et al.
- “The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders” by Vandana Shashi, et al.
Potential for targeting aggressive breast cancers shown by new UK study
(Medical News Today) – A new study led by University of Kentucky Markey Cancer Center researcher Peter Zhou shows that targeting Twist, a nuclear protein that is an accelerant of the epithelial-mesenchymal transition (EMT) program in human cells, may provide an effective approach for treating triple-negative breast cancer.
The genetics of drug tolerance
(Medical Xpress)—Put yourself in the shoes of a psychiatrist. You just diagnosed a person with schizophrenia, and you can prescribe any number of antipsychotic drugs, all of which can cause serious side effects. You know that older drugs, such as haloperidol, work well, but a third of all schizophrenia patients who take it suffer from Parkinsonian-like symptoms, such as tremors, involuntary spasms, and uncontrollable facial movements. You also know that those side effects are permanent in about half the people who experience them. In other words, you could be prescribed a drug that causes permanent brain damage.
February 12, 2014
Ancient genome stirs ethics debate
(Nature) – The remains of a young boy, ceremonially buried some 12,600 years ago in Montana, have revealed the ancestry of one of the earliest populations in the Americas, known as the Clovis culture. Published in this issue of Nature, the boy’s genome sequence shows that today’s indigenous groups spanning North and South America are all descended from a single population that trekked across the Bering land bridge from Asia. The analysis also points to an early split between the ancestors of the Clovis people and a second group, whose DNA lives on in populations in Canada and Greenland.
After more than 50 years, a dispute over Downs syndrome discovery
(Science) – It would have been a personal triumph for Marthe Gautier, an 88-year-old pediatric cardiologist and scientist living in Paris. On 31 January, during a meeting in Bordeaux, Gautier was to receive a medal for her role in the discovery of the cause of Down syndrome in the late 1950s. In a speech, she planned to tell an audience of younger French geneticists her story about the discovery—and how she felt the credit she deserved went to a male colleague, Jérôme Lejeune.
(MIT Technology Review) – Now there is hope in the form of new genome-engineering tools, particularly one called CRISPR. This technology could allow researchers to perform microsurgery on genes, precisely and easily changing a DNA sequence at exact locations on a chromosome. Along with a technique called TALENs, invented several years ago, and a slightly older predecessor based on molecules called zinc finger nucleases, CRISPR could make gene therapies more broadly applicable, providing remedies for simple genetic disorders like sickle-cell anemia and eventually even leading to cures for more complex diseases involving multiple genes.
February 11, 2014
Is intelligence written in the genes?
(The Telegraph) – A gene which may make people more intelligent has been discovered by scientists. Researchers have found that teenagers who had a highly functioning NPTN gene performed better in intelligence tests. It is thought the NPTN gene indirectly affects how the brain cells communicate and may control the formation of the cerebral cortex, the outermost layer of the human brain, also known as ‘grey matter.’
February 10, 2014
Genome editing goes hi-fi: Technique in stem cells to boost scientists’ ability to study genetic disease
(Phys.org) – Sometimes biology is cruel. Sometimes simply a one-letter change in the human genetic code is the difference between health and a deadly disease. But even though doctors and scientists have long studied disorders caused by these tiny changes, replicating them to study in human stem cells has proven challenging. But now, scientists at the Gladstone Institutes have found a way to efficiently edit the human genome one letter at a time—not only boosting researchers’ ability to model human disease, but also paving the way for therapies that cure disease by fixing these so-called ‘bugs’ in a patient’s genetic code.