herenciageneticayenfermedad: Genetics

jueves, 2 de noviembre de 2017

Genetics - Nov 1, 2017 Edition

	November 1, 2017
	Genetics
	The latest Genetics news from News Medical

	‘Precision Medicine’ may not always be so precise when applied to diverse populations, study says Precision Medicine in oncology, where genetic testing is used to determine the best drugs to treat cancer patients, is not always so precise when applied to some of the world's more diverse populations, according to a study led by the Translational Genomics Research Institute, an affiliate of City of Hope, and the Keck School of Medicine of the University of Southern California.

	Researchers find rare genetic variants that may help explain longevity in some CF patients Cystic fibrosis is an inherited disorder caused by genetic mutations that disrupt the normal movement of chloride in and out of cells. Among other health problems, cystic fibrosis compromises the lungs' ability to fight infection and breathe efficiently, making it the most lethal genetic disease in the Caucasian population. Patients have an average lifespan of just 30 to 40 years.

			CRISPR - a genetic editor - used to edit DNA and RNA in two parallel studies Two different studies have shown that CRISPR - a gene editing tool, could be the next big thing in manipulating and modifying the DNA to suit the needs.

			Genome-wide molecular tests can guide treatment in recurrent glioblastoma, study shows Several patients with recurring glioblastoma, a deadly brain cancer, survived for more than a year in a clinical trial believed to be the first to use comprehensive DNA and RNA sequencing of a patient's tumor to inform treatment for these patients in real-time.

			IBN researchers create DNA technology with two new genetic alphabets Just like how alphabets are strung together to form words, our DNA is also strung together by alphabets to encode proteins. Our DNA contains only 4 natural genetic alphabets - A, C, G and T, which hold the blueprint for the production of proteins that make our bodies work.

	Genetic variability of Helicobacter pylori complicates efforts to develop effective vaccine Helicobacter pylori is a widespread bacterial pathogen that infects the lining of the stomach, where it can cause ulcers and even cancer. As a new study shows, its genetic variability complicates efforts to develop an effective vaccine.

	Dartmouth study uncovers three novel genetic biomarkers for lung cancer Both environmental and genetic risk factors contribute to development of lung cancer. Tobacco smoking is the most well-known environmental risk factor associated with lung cancer. A Dartmouth research team led by Yafang Li, PhD, has conducted a study to display that gene-smoking interactions play important roles in the etiology of lung cancer.

	Adopting healthy diet can help reverse risk of high triglycerides, despite genetic predisposition Triglycerides, a type of fat in the blood, are important for good health. But having high triglycerides might increase a person's risk of heart disease, and may be a sign of metabolic syndrome--a combination of high blood pressure, high blood sugar, and too much fat accumulation at the waist.

	New enzyme may one day enable genome surgery that erases harmful mutations DNA editing just got a sharp, new pencil. Researchers have built an enzyme that can perform a previously impossible DNA swap, directly changing the DNA base pair from an A•T to a G•C.

	Gene therapy prevents age-related learning and memory problems in mice Researchers from the Institute of Neurosciences at the Universitat Autònoma de Barcelona and the Vall d'Hebron Research Institute are the first to demonstrate that regulation of the brain's Klotho gene using gene therapy protects against age-related learning and memory problems in mice.

	Researchers develop new way to genetically engineer T cells for treating leukemia relapse Researchers at Fred Hutchinson Cancer Research Center and the University of Washington have developed a novel way to genetically engineer T cells that may be effective for treating and preventing leukemia relapse.

	Penn study sheds light on genetic cause of early hearing loss From the moment a baby is born, they are put through a battery of screenings to test for all sorts of characteristics, which includes the sense of hearing.

	Cancer researchers make breakthrough in identifying genetic changes during immunotherapy For some cancer patients, the road to remission and healing can have its share of speed bumps. That's particularly true of patients with non-small cell lung cancer (NSCLC) who develop a secondary, or acquired, resistance to immunotherapy, which initially was effective against their tumors.

	Research advance may lead to preservation of hearing in people with Usher syndrome type III A research advance co-led by Case Western Reserve University School of Medicine's Kumar Alagramam, PhD, may stop the progression of hearing loss and lead to significant preservation of hearing in people with Usher syndrome type III, a form of hereditary hearing loss linked to defects in the sensory "hair" cells in the inner ear. USH3 is caused by a mutation in the clarin-1 gene.

	New analysis method allows to efficiently search for gene transfers onto Y chromosome Y chromosomes, which are only inherited paternally, evolved from "normal" chromosomes known as autosomes. As males only possess one Y chromosome, there is no counterpart for recombination, the direct exchange of genetic material.

	Penn study shows how blood flow shapes developing heart valves into mature valve leaflets Congenital heart valve defects appear in 2 percent of all live births, making them the most common type of birth defect. While some of these defects have been linked to specific genetic mutations, the majority have no clearly definable genetic cause, suggesting that epigenetic factors - changes in gene expression versus an alteration in the genetic code -- play an important role.

	UC study reveals metamorphic adaptation of certain spadefoot toads in response to climate change Deep within aquatic ecosystems all over the world, certain toad species have managed to survive warmer and drier climate change. But the method behind their metamorphic adaptation to environmental change over time has long puzzled scientists -- until now.

	Researchers identify important mechanism of epigenetic gene regulation How can defective gene activity, which can ultimately lead to cancer, be avoided? Researchers at the University of Zurich have now identified a mechanism how cells pass on the regulation of genetic information through epigenetic modifications. These insights open the door to new approaches for future cancer treatments.

	Using Machine Learning to Accurately Diagnose Childhood Autism Sooner Autism is a clinical diagnosis. There is no one test to diagnose autism. Depending on the type of medical professional diagnosing, typically the DSM-V (standard classification of mental disorders used by mental health professionals in the U.S.) is used to diagnose by primary care physicians, neurologists, and psychiatrists.

	Study shows effects of prenatal BPA exposure at low levels in developing rodent brain New research from North Carolina State University reveals that prenatal exposure to bisphenol A (BPA) at levels below those currently considered safe for humans affects gene expression related to sexual differentiation and neurodevelopment in the developing rat brain.

	Non-invasive diagnostic tool developed for early detection of ovarian cancer Investigators from Brigham and Women's Hospital and Dana-Farber Cancer Institute are leveraging the power of artificial intelligence to develop a new technique to detect ovarian cancer early and accurately.

	Conference to focus on preventing and reversing consequences of sickle cell disease Leading experts in the field of sickle cell disease (SCD) research will convene in Washington, D.C., for the Physiological and Pathophysiological Consequences of Sickle Cell Disease conference (November 6–8). The conference, organized by the American Physiological Society, will explore SCD- the world's most prevalent single-gene mutation disease-; and new research on preventing and reversing its deadly consequences.

	Majority of women at higher risk for breast cancer decline MRI screenings, study finds Some women, because of genetic predisposition, personal, or family history, have a higher than average lifetime risk of developing breast cancer. For those women, earlier magnetic resonance imaging (MRI) is recommended for cancer screening.

	New study sheds light on normal function of Parkinson's gene A new study published in the journal Neuron sheds light on the normal function of LRRK2, the most common genetic cause for late-onset Parkinson's disease. The study was supported by the National Institute of Neurological Disorders and Stroke, part of the National Institutes of Health.

	AMSBIO launches new service for synthesis of custom-designed synthetic mRNAs AMSBIO announces the launch of a new service for synthesis of custom-designed, highly modified mRNAs prepared by an advantageous in vitro transcription methodology.

	New gene drive approach helps pinpoint combination therapies against fungal pathogens Candida albicans is a notorious human fungal pathogen that causes thrush and serious systemic infections. Opportunistic C. albicans fungi, which often live inconspicuously in the normal flora of human skin and gut, can switch from their harmless stealth mode to become aggressive pathogens, especially in people whose immune systems are already compromised by pre-existing diseases or harsh drug therapies.

	NASA’s “Twins Study” explores the effects space travel has on the human body Preliminary results from NASA’s Twins Study have revealed some of the bodily changes that occurred in an astronaught, who spent almost one year in space, compared with his twin brother, who remained on earth.

	Living with Ehlers-Danlos Syndrome Ehlers-Danlos Syndrome, in short, EDS refers to a bunch of hereditary connective tissue disorders. Connective tissues are a complex mixture of proteins and other substances that provide strength and elasticity to the underlying structures in the human body.

	Ear Cancer Research The unusual multiplying of cells or malignancy in the ear is an indication of ear cancer. Ear cancer may be mild or sometimes malignant.

	Multiple Keratoacanthomas Keratoacanthoma is a skin tumour which arises from the hair follicle. It is a low-grade skin tumour, which is more likely to occur on parts of the skin regularly exposed to the ultraviolet rays of the sun. This leads to DNA damage in that portion of the skin and subsequently to the development of a skin tumour in the form of a keratoacanthoma.

	Study: New histone modifications link cellular metabolism to chromatin architecture Scientists of Helmholtz Zentrum München and Ludwig-Maximilians-Universität Munich (LMU) have discovered that two new classes of histone modifications couple cellular metabolism to gene activity. The study was published in 'Nature Structural and Molecular Biology'.

	Timing of DNA damage within checkpoints matters to a cell's fate, study reports DNA damage occurs routinely within your cells due to sun exposure, smoking and sometimes during the normal process of making new DNA.

	Tiny microscopes give researchers a peek into neural circuitry of social behavior Tiny microscopes mounted on mice's heads have given researchers a peek into the neural circuitry of social behavior.

	Repositive introduces first Global PDX Directory at AACR conference The first Global PDX Directory for proprietary and open source PDX models is being introduced by Cambridge (UK) based benefit corporation, Repositive, at the American Association for Cancer Research’sInternational Conference, on Molecular Targets and Cancer Therapeutics, hosted in conjunction with the European Organisation for Research and Treatment of Cancer and the National Cancer Institute, in Philadelphia, USA, 26-30 October 2017.

	Novel laboratory model may shine light on development of pediatric high-grade glioma Pediatric high-grade glioma is the primary cause of cancer death in children. Genesis of these tumors is believed to be driven by mutations in proteins that disrupt fundamental mechanisms governing the development of the human brain.