March 10, 2014
Mutations in leukemia gene linked to new childhood growth disorder
(Medical Xpress) – Mutations in a gene associated with leukaemia cause a newly described condition that affects growth and intellectual development in children, new research reports. A study led by scientists at The Institute of Cancer Research, London, identified mutations in the DNA methyltransferase gene, DNMT3A, in 13 children.
Chemo drug helps HIV patients respond to Sangamo gene therapy
(Reuters) – Treating HIV patients first with a chemotherapy drug improved their response to an experimental gene-modifying technique for controlling the virus, according to Sangamo BioSciences. The company presented new data from a small early-stage trial of its treatment, SB-728-T, on Thursday at the Conference on Retroviruses and Opportunistic Infections in Boston.
March 7, 2014
Genetic cause found for premature ovarian failure
(Medical Xpress) – A team led by researchers from the Spanish National Research Council and the University of Salamanca has found a genetic cause for premature ovarian failure, a disorder affecting 1 percent of women that provokes the loss of ovarian function years before menopause. The results, published in The New England Journal of Medicine and Human and Molecular Genetics journals, demonstrate for the first time that mutation in STAG3 gene is the major cause of human fertility disorders as it provokes a loss of function of the protein it encodes.
March 6, 2014
Gene-editing method tackles HIV in first clinical trial
(Nature) – A clinical trial has shown that a gene-editing technique can be safe and effective in humans. For the first time, researchers used enzymes called zinc-finger nucleases (ZFNs) to target and destroy a gene in the immune cells of 12 people with HIV, increasing their resistance to the virus. The findings are published today in The New England Journal of Medicine. “This is the first major advance in HIV gene therapy since it was demonstrated that the ‘Berlin patient’ Timothy Brown was free of HIV,” says John Rossi, a molecular biologist at the Beckman Research Institute of the City of Hope National Medical Center in Duarte, California.
New findings on neurogenesis in the spinal cord
(Medical News Today) – Research from Karolinska Institutet in Sweden suggests that the expression of the so called MYC gene is important and necessary for neurogenesis in the spinal cord. The findings are being published in the journal EMBO Reports. The MYC gene encodes the protein with the same name, and has an important role in many cellular processes such as proliferation, metabolism, cell death and the potential of differentiation from immature stem cells to different types of specialized cells. Importantly it is also one of the most frequently activated genes in human cancer.
Study finds genetic link between height and IQ
(Medical Xpress) – A team of researchers at Edinburgh University in Scotland has found a correlation between genes associated with height and those associated with intelligence. In their paper published in the journal Behavior Genetics, the group describes how they studied the DNA of 6,815 unrelated people and discovered what they describe as a direct correlation between height and intelligence—taller people are smarter, they say.
March 5, 2014
Epigenetics: The sins of the father
(Nature) – Biologists first observed this ‘transgenerational epigenetic inheritance’ in plants. Tomatoes, for example, pass along chemical markings that control an important ripening gene. But, over the past few years, evidence has been accumulating that the phenomenon occurs in rodents and humans as well. The subject remains controversial, in part because it harks back to the discredited theories of Jean-Baptiste Lamarck, a nineteenth-century French biologist who proposed that organisms pass down acquired traits to future generations.
March 4, 2014
A powerful new way to edit DNA
(New York Times) – Already the molecular system, known as Crispr, is being used to make genetically engineered laboratory animals more easily than could be done before, with changes in multiple genes. Scientists in China recently made monkeys with changes in two genes. Scientists hope Crispr might also be used for genomic surgery, as it were, to correct errant genes that cause disease. Working in a laboratory — not, as yet, in actual humans — researchers at the Hubrecht Institute in the Netherlands showed they could fix a mutation that causes cystic fibrosis.
March 3, 2014
Study pinpoints protective mutations for type 2 diabetes
(Medical Xpress) – An international team led by researchers at the Broad Institute and Massachusetts General Hospital (MGH) has identified mutations in a gene that can reduce the risk of developing type 2 diabetes, even in people who have risk factors such as obesity and old age. The results focus the search for developing novel therapeutic strategies for type 2 diabetes; if a drug can be developed that mimics the protective effect of these mutations, it could open up new ways of preventing this devastating disease.
Whose genome is it anyway? Doctors face dilemmas over risk knowledge
(U.S. News and World Report) – When you break your arm and get an X-ray, those results are mostly only significant to you – they don’t affect your brother, your sister, your parents or that distant cousin of yours in Alaska. But genetic testing is different, explains Dr. Mark Robson, clinic director of the Clinical Genetics Service at Memorial Sloan-Kettering Cancer Center in New York City. Targeted genetic tests – such as tests for Alzheimer’s disease, Huntington’s disease and certain types of cancer – yield results that can have dramatic and unpredictable consequences for family members. For doctors, deciding whom to test, when to return results and whom those results might impact is perhaps even more complex.
Why men are more likely to have autism: Their brains are more prone to genetic flaws, study finds
(Daily Mail) – Researchers claim to have discovered why autism is more common in boys than girls. A study, published in the American Journal of Human Genetics, suggests girls require more extreme genetic mutations than boys to develop the condition. As a result, it is less likely that they will be pushed over the diagnostic threshold for autism. Study author Dr Sébastien Jacquemont, of the University Hospital of Lausanne in Switzerland, said: ‘This is the first study that convincingly demonstrates a difference at the molecular level between boys and girls referred to the clinic for a developmental disability.
UK drafts rules for three-parent IVF babies
(Medical News Today) – The UK government have drafted and published, for public consultation, how the creation of three-person babies using new IVF techniques – called mitochondrial replacement – will be regulated. The new techniques are intended to prevent mothers passing on serious inherited diseases caused by flaws in mitochondrial DNA to their children.
February 28, 2014
Pancreatic cancer’s killer trick offers treatment hope
(New Scientist) – PANCREATIC cancer’s deadliest trick could be its undoing. Despite each person’s tumours having very different genetic mutations, they all cause the same metabolic changes that help it grow. What’s more, drugs already exist that can block the process. Pancreatic cancer is the most lethal of all common cancers – 95 per cent of people die within five years of diagnosis. One reason it is so deadly is that no two cases are genetically the same.
UK moves to legalize controversial IVF technique
(Nature News) – The United Kingdom today inched closer to legalizing a controversial method of reproduction, known as mitochondrial replacement, or ‘three-parent IVF’. The Department of Health announced a public consultation of draft legislation that would allow the procedures, which are intended to prevent children from inheriting diseases caused by faulty mitochondria. The consultation, which runs until 21 May, is an early step toward amending the Human Fertilisation and Embryology Act, which would allow the mitochondrial replacement procedures.
February 27, 2014
Study calls DNA test reliable in discovering fetal disorders
(Los Angeles Times) – It’s billed as a faster, safer and more accurate way of screening expectant mothers for fetal abnormalities like Down syndrome, and proponents say it has already become the standard for prenatal care. But as a handful of California companies market their DNA-testing services to a growing number of pregnant women, some experts complain that the tests have not been proven effective in the kind of rigorous clinical trials that are required of new drugs.
FDA weighs evidence on producing ’3-parent’ embryos
(Fox News) – U.S. medical advisers are considering whether there is scientific justification for allowing human studies of a controversial procedure known as “three-parent in vitro fertilization (IVF),” a technique supporters say could prevent horrific genetic defects but that critics believe could lead to designer babies. During two days of public hearings starting on Tuesday, scientists were scheduled to present their research to outside advisers to the U.S. Food and Drug Administration.
Can a genetic model predict next year’s flu strain?
(Los Angeles Times) – The seasonal flu has met its enemy, and it’s calculus. A theoretical physicist and computational biologist analyzed the genetic code of thousands of strains of Influenza A that occurred over a 44-year period to create a model that accurately predicts which strain will prevail in the pitched evolutionary battle between human antibodies and the rapidly mutating virus. Their method proved more accurate for selecting an appropriate vaccine than the current method used by public health officials, according to a report published online Wednesday in the journalNature.
February 26, 2014
Science in court: Disease detectives
(Nature) – The method, which marries classic evolutionary-biology practices with modern sequencing technology, is increasingly being used in criminal and civil investigations, and for biodefence. A paper published this month, for example, describes how the technique allowed scientists to trace the likely origin of an anthrax-laced batch of heroin that has been killing users across Europe since 2009. But the intersection of this science with the legal system makes many uneasy, says Anne-Mieke Vandamme, an evolutionary geneticist at the University of Leuven in Belgium, who has worked on 19 criminal cases since 2002, mostly for the defence. Unlike DNA evidence, which is routinely used in legal settings around the world, the results of phylogenetic forensics are rarely definitive. “You can never prove guilt,” she says.
February 25, 2014
The secret to a bulletproof antidoping test?
(New York Times) – In the lab of Yannis Pitsiladis, a physiologist in Scotland, athletes spend their days injecting synthetic EPO, a popular performance-enhancing drug that tricks bone marrow into churning out more red blood cells, allowing athletes’ bodies to absorb more oxygen. Pitsiladis hasn’t gone rogue. He’s at the forefront of an effort to revolutionize the hunt for dopers in sports by scouring his subjects’ blood cells for a distinctive, long-lasting genetic “fingerprint” left by the drug.
Study: Women with BRCA1 mutations should remove ovaries by 35
(CNN) – A new study on healthy women with genetic mutations that sharply increase the risk of breast and ovarian cancer supports the old adage: An ounce of prevention is worth a pound of cure. The report, published online Monday in the Journal of Clinical Oncology, studied nearly 5,800 women with specific genetic mutations called BRCA1 and BRCA2. Researchers found that women with BRCA1 and BRCA2 mutations who protectively had their ovaries removed reduced their risk of ovarian, fallopian tube, or peritoneal cancer by 80%, and their overall risk of death by 77%.
Sequencing genes can pinpoint rare illnesses. Might it also help with other problems?
(Washington Post) – Born prematurely, Lillian Yuska struggled to feed, and she suffered from chronic gastrointestinal problems and repeated infections. After years of shuttling her from specialist to specialist, Lillian’s parents turned to cutting-edge technology: They had their daughter’s genetic code mapped. This genomic sequencing, which began when Lillian was 4, revealed that she had tricho-hepato-enteric syndrome-2, a condition caused by a gene mutation that disrupts gut function and immunity. Only six other children worldwide are known to have the condition.