CIENCIASMEDICASNEWS: Health News and Information - News Medical - Genetics

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Health News and Information - News Medical - Genetics - Apr 3, 2018 Edition

Health News and Information - News Medical

	April 3, 2018
	Genetics
	The latest Genetics news from News Medical

	Briefing note examines ethical issues in whole genome sequencing of babies The Nuffield Council on Bioethics has today published a briefing note that examines the ethical issues raised by whole genome sequencing of babies.

	Human genome is like a time machine, says researcher The human genome is a bit like a time machine, says Ben Voight, an associate professor in Systems Pharmacology and Translational Therapeutics and of Genetics in Penn's Perelman School of Medicine.

			Largest-ever study uncovers new genetic contributors to stroke An international research group, including scientists at the University of Maryland School of Medicine, studying 520,000 people from around the world has identified 22 new genetic risk factors for stroke, tripling the number of gene regions known to affect stroke risk.

			Researchers develop comprehensive map of genetic risk factors for stroke Stroke is a serious disease affecting blood flow to and from the brain, and is the second leading cause of death worldwide. Stroke is characterized by a sudden onset of neurological dysfunction, caused by a blood clot or hemorrhage in a cerebral artery. While many genetic variants and lifestyle behaviors have been identified as risk factors for stroke, the genetic basis for the disease is unknown.

			Study identifies genetic factors linked to severity of acute viral bronchiolitis A scientific study conducted at the State University of Campinas (UNICAMP) in São Paulo State, Brazil, has identified genetic factors associated with the severity of acute viral bronchiolitis. The study was supported by the Sao Paulo Research Foundation - FAPESP. Its results were published in the journal Gene.

	Genetic testing could help guide blood-thinner treatment after stent placement Using genetic testing to inform which blood thinner to use following a procedure to open narrowed blood vessels resulted in significantly fewer complications among patients, according to new research in Circulation: Genomic and Precision Medicine, an American Heart Association journal.

	Study shows limitations of AAV gene therapy in treating hereditary adrenal disorders A new study has definitively shown that a single treatment with gene therapy using adeno-associated viral (AAV) vector gene delivery to replace the defective gene responsible for congenital adrenal hyperplasia (CAH) will only temporarily alleviate the hereditary disorder.

	Manipulating RNA sequences using CRISPR-Cas13 Recent advances in CRISPR-Cas13 technology mean that it can now be used to locate and even reduce cancer associated gene expression.

	Researchers probe RNA epigenetics and chromatin structures to predict drug resistance in leukemia Drug resistance is a major obstacle to effective treatment for patients with cancer and leukemia. Epigenetic modifying drugs have been proven effective for some patients with hematologic malignancies, such as myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML).

	Study identifies potential genetic link in sudden infant death syndrome Rare genetic mutations associated with impairment of the breathing muscles are more common in children who have died from sudden infant death syndrome (also known as ‘cot death’) than in healthy controls, suggesting a possible genetic element of the disorder, according to a case-control study in the UK and USA published in The Lancet.

	Scientists use CRISPR to develop a genome surveillance tool Scientists have converted CRISPR/Cas9 into a genome surveillance tool, in an effort to develop a more effective way of fighting disease.

	New model predicts impact of rare genetic variants on IQ Researchers have developed a new model that can predict the effect of rare genetic variants on a person’s IQ.

	New model predicts impact of rare genetic variants on IQ Researchers have developed a new model that can predict the effect of rare genetic variants on a person’s IQ.

	Genetic links to cot deaths found in new research Cot death or Sudden Infant Death Syndrome (SIDS) is a rare but unexplained and tragic occurrence where babies between ages two and four months who are apparently healthy die unexpectedly during sleep. SIDS is responsible for around 300 and 2400 deaths in the United Kingdom and United States of America yearly. Researchers have now found a genetic link that could explain the occurrence and risk of such incidents.

	Study provides insights into how male germ cells avoid genome instability A group of researchers at Osaka University reported the function of GTSF1 in male germ cells. The study, which can be read in EMBO Reports, shows that GTSF1 is an essential factor for secondary piRNA biogenesis by regulating piRNA-mediated cleavage of target RNA.

	Genetic mutation that may protect people from malaria found to be more common A genetic mutation that may protect people from malaria, but was thought to be rare, is surprisingly common, suggest the findings of a new study led by scientists at The Scripps Research Institute.

	Study uncovers genetic trigger that may help the brain to recover from stroke, other injuries Scientists have found a genetic trigger that may improve the brain's ability to heal from a range of debilitating conditions, from strokes to concussions and spinal cord injuries.

	Scientists develop futuristic gene therapy for liver cancer Genetically engineered human T cells that are effective at fighting liver cancer in mice may one day help patients fight liver cancer, say researchers.

	New gene therapy may help the brain to heal following stroke and other injuries Researchers have discovered a genetic trigger that may improve the brain’s ability to heal in conditions such as stroke, concussion and spinal cord injury.

	Researchers identify 200 mutations in non-coding DNA that play role in cancer Most of the human genome - 98 percent - is made up of DNA but doesn't actually encode genes, the recipes cells use to build proteins.

	What are Viral Retroposons? Retroposons are repetitive DNA fragments that are inserted into a host chromosome after reverse transcription from an RNA molecule.

	EPFL researchers uncover how the circadian clock regulates 3D chromatin structure EPFL biologists and geneticists have uncovered how the circadian clock orchestrates the 24-hour cycle of gene expression by regulating the structure of chromatin, the tightly wound DNA-protein complex of the cell. The work is published in Genes & Development.

	Applications of FISH Fluorescence in situ hybridization (FISH) is a genetic technique used to diagnose congenital diseases, infectious disease and cancer.

	What is an Amniocentesis? Amniocentesis is a diagnostic procedure in which a small amount of amniotic fluid is removed from the sac of amniotic fluid around the baby inside the uterus, to test for certain chromosomal anomalies and other genetic defects. This fluid is meant to protect and nourish the baby and is vital for its proper development.

	Research provides better understanding of how some cancer cells resist treatment An international team of researchers led by Lucio Miele, MD, PhD, Professor and Chair of Genetics at LSU Health New Orleans School of Medicine, and Justin Stebbing, BM BCh MA, PhD, Professor of Cancer Medicine and Medical Oncology at Imperial College of Medicine in London, has found new genetic mutations that promote the survival of cancer cells.

	International researchers discover link between congenital heart defects and adrenal gland cancer An international team led by Dr. Patricia Dahia, M.D., Ph.D., of UT Health San Antonio, discovered a genetic mutation that explains why adults with severe congenital heart defects--who live with low oxygen in their blood--are at dramatically high risk for adrenal gland cancer.

	What is Leber Congenital Amaurosis? Leber congenital amaurosis (LCA) is a very severe form of congenital blindness due to hereditary retinal dystrophy. It was first identified by Theodore Leber in 1869, and is diagnosed early in infancy or at birth.

	Study reveals how interneurons emerge and diversify in the brain Modern neuroscience, for all its complexity, can trace its roots directly to a series of pen-and-paper sketches rendered by Nobel laureate Santiago Ramón y Cajal in the late 19th and early 20th centuries.

	Adult-onset degenerative disease mechanism begins much earlier than previously thought The disease mechanism for adult-onset progressive degenerative diseases begins much earlier than previously thought, according to a Northwestern Medicine study published in the Journal of Clinical Investigation.

	Health Effects of a Gluten Free Diet Gluten is a family of proteins that make up about 85% to 90% of the protein composition found in wheat, barley, rye and some other grains. It is made up of almost equal proportions of two types of proteins called gliadins and glutenins, of which each has many subtypes. Thus, the genetic diversity of gluten is staggering.

	What is an Echogenic Intracardiac Focus? An echogenic intracardiac focus is a small bright spot seen within the region of the heart seen during an ultrasound examination.

	Leber Congenital Amaurosis Symptoms Leber congenital amaurosis (LCA) is a congenital cause of severe visual loss. It is an autosomal recessive condition caused by several different mutations in a variety of genes. It is therefore important to identify the cause of the retinopathy using clinical findings and other diagnostic tests to support the diagnosis. Genetic testing has become mandatory to establish the diagnosis.

	UBC researchers unveil representative of most abundant giant viruses in the sea Bodo saltans virus, the first isolated representative of the most abundant giant viruses in the sea, has been unveiled by researchers at the University of British Columbia.

	Leber Congenital Amaurosis Diagnosis The condition called Leber Congenital Amaurosis (LCA) is an inherited one, caused by the transmission of two copies of a defective or mutated gene, one from each parent, which results in abnormal retinal development and significant or total impairment of its function. The loss of vision results in visual acuity of 20/400 or less.

	TP53 as a Tumor Suppressor P53, the gene product of the TP53 gene, is a fundamental protein involved in the suppression of tumorigenesis.

	What are CAR T cells? CAR T cells are T lymphocytes that have been genetically engineered to express a chimeric antigen receptor that is specific to a tumor antigen.

	AMSBIO and Genea Biocells partner for distribution of skeletal muscle differentiation kit AMSBIO has signed an agreement with Genea Biocells (San Diego, USA) to become global distribution partner to the academic community for its groundbreaking skeletal muscle differentiation product range.

	Leading experts to promote cardiovascular health at EuroPrevent 2018 The impact of nutrition and lifestyle on cardiovascular health will be key elements discussed by health professionals during EuroPrevent 2018 in Ljubljana, Slovenia, in April. EuroPrevent is the annual congress of the European Association of Preventive Cardiology, a branch of the European Society of Cardiology.

	Alpha brain wave frequency could help measure individual's vulnerability to pain, study finds The frequency of alpha brain waves can be used as a measure of an individual's vulnerability to developing and experiencing pain, researchers at the University of Birmingham in the UK and University of Maryland in the US have discovered.

	Lassa fever epidemic in Nigeria beginning to slow, but concern remains After nearly 400 confirmed infections and 100 deaths, the spread of Lassa fever in Nigeria is beginning to slow but the epidemic is far from contained, the World Health Organization and the Nigeria Centre for Disease Control have warned.

	The Human Microbiome – A New Potential Fingerprint in Forensic Evidence? Professor Jack Gilbert gives an overview of the Burglary Microbiome Project, which he discussed at Pittcon 2018.

	FDA-approved inhibitors could be repurposed to target ARID1A-mutant ovarian cancers Wistar researchers have found rationale for repurposing a class of antitumor compounds called HDAC inhibitors, already approved by the FDA for the treatment of diseases such as leukemia, as a new therapeutic option for ovarian cancer with mutations in the ARID1A gene.

	Bioactive Glass Fibers Reduce Wound Infection Risk Fibers produced using bioactive glasses exhibit bactericidal properties, meaning they can be used to reduce the risk of a wound becoming infected.