herenciageneticayenfermedad: Genetics

miércoles, 24 de enero de 2018

Genetics - Jan 24, 2018 Edition

Health News and Information - News Medical

	January 24, 2018
	Genetics
	The latest Genetics news from News Medical

	Three-dimensionalorganization of genome plays key role in gene expression, cell fate Scientists have long been reading the code of life - the genome -, as a sequence of letters but now researchers have also started exploring its three-dimensional organization.

	Children born with Down's syndrome have superior genome that compensates for disability Down's syndrome - also known as trisomy 21 - is a genetic disorder caused by an additional third chromosome 21. Although this genetic abnormality is found in one out of 700 births, only 20% of foetuses with trisomy 21 reach full term.

	Promoting precision medicine using data science of large datasets Data science is a marriage between statistical science and informatics, using statistical principals of math and logic on huge volumes of data.

			Researchers develop new mathematical tool to solve genetics challenge Researchers developed a new mathematical tool to validate and improve methods used by medical professionals to interpret results from clinical genetic tests. The work was published this month in Genetics in Medicine.

			Applications of Genome-Wide RNAi This article describes the applications of genome-wide RNA interference, including protocol development, and decoding drug resistance and drug targets.

			Novel gene expression analysis technique can accurately and quickly measure RNA A University of Illinois and Mayo collaboration has demonstrated a novel gene expression analysis technique that can accurately measure levels of RNA quickly and directly from a cancerous tissue sample while preserving the spatial information across the tissue --something that conventional methods cannot do.

	Review explores consequences of genetic testing and cancer risk-reducing surgery Genetic testing is commonplace for many inheritable cancer syndromes, and with that comes the knowledge of being a gene carrier for some patients.

	Massive Parallel Signature Sequencing (MPSS) This article outlines the process of mRNA sequencing and gene expression analysis using MPSS. It also details the applications and limitations of MPSS.

	Scientists identify molecular key that opens up compacted genome News article describing the recent discovery of pax7, a protein which opens up compacted DNA for access by transcription factors.

	Genetic study identifies six new gene regions associated with type 1 diabetes in children This article outlines a recent study which identified six novel gene regions in children who are at risk of type 1 diabetes.

	Genome analysis reveals leprosy's origin and drug resistance Leprosy is an infectious disease with gruesome symptoms. It damages the skin, peripheral nerves, the upper respiratory tract, and the eyes.

	GA-map Dysbiosis Test identifies IBS patients who respond to FODMAP diet, study shows Genetic Analysis, a leading Microbiome MDx specialist, today announced the publication of a new study in the peer-reviewed journal Digestive Disease and Sciences showing the results of using its GA-map Dysbiosis Test for identifying IBS patients who respond to the FODMAP diet and thus receive symptom relief.

	Chinese researchers develop multifunctional vehicle to transport gene therapeutics Gene editing is one of the hottest topics in cancer research. A Chinese research team has now developed a gold-nanoparticle-based multifunctional vehicle to transport the "gene scissors" to the tumor cell genome.

	Researchers use epigenetic signatures to advance diagnosis for neurodevelopmental disorders Greenwood Genetic Center researchers in collaboration with scientists from Canada have identified unique epigenetic signatures for nine neurodevelopmental disorders lending to a better method of diagnosis for disorders with much clinical overlap.

	JAX researcher receives grant for retinal disease research The National Eye Institute has awarded Jackson Laboratory Professor Juergen Naggert, Ph.D., a five-year grant totaling $2,187,500 to study genetically controlled breaks in an eye structure known as the external limiting membrane, which could hold the key to understanding and treating enhanced S-cone syndrome and other diseases of the retina.

	Findings provide better understanding of cognitive inflexibility in Fragile X Syndrome Mice with the genetic defect that causes Fragile X syndrome (FXS) learn and remember normally, but show an inability to learn new information that contradicts what they initially learned, shows a new study by a team of neuroscientists.

	Scientists identify protein biomarkers to track patients with Hutchinson-Gilford progeria syndrome Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare fatal genetic disorder which causes sufferers to age prematurely.

	Researchers discover potential target genes to halt thyroid cancer progression Thyroid cancer is a disease with good cure rates in most cases. In 5% of patients, however, the tumor becomes refractory to the available therapies and may spread all over the body, causing death.

	Researchers propose new regulation mechanism linked to action of SirT6 on chromatin Researchers from the Epigenetics and Cancer Biology Program of the Bellvitge Biomedical Research Institute, led by Dr. Àlex Vaquero, have proposed a new regulation mechanism of the NF-κB pathway, which is associated with accelerated cellular aging, based on the analysis of the function of the SirT6 protein.

	New Analytical Tools Extend the Boundaries of Omics Research 'Omics' research is based on non-targeted investigations that provide a holistic view of the molecules present in a cell, tissue or organism and how they change in response to environmental stimuli. The different branches of 'omics' research each focuses on a specific of cell components.

	Research reveals cost-effectiveness of whole-population screening for breast, ovarian cancer gene mutations Screening the entire population for breast and ovarian cancer gene mutations, as opposed to just those at high-risk of carrying this mutation, is cost effective and could prevent more ovarian and breast cancers than the current clinical approach, according to research published today in the Journal of the National Cancer Institute.

	DNA study sheds light on longstanding puzzle of cell division Scientists have solved a longstanding puzzle of how cells are able to tightly package DNA to enable healthy cell division.

	New family of FFPE reagent kits launched by Beckman Coulter Life Sciences Today, Beckman Coulter Life Sciences launched a family of FormaPure reagent kits for extracting nucleic acid from often challenging formalin-fixed, paraffin-embedded (FFPE) tissues. FormaPure reagent kits represent a single chemistry system designed and optimized for use in next-generation sequencing (NGS) and other downstream applications, including qPCR/ddPCR/PCR.

	Abcam’s New Poster on DNA and Histone Modifications Abcam’s new poster on DNA and histone modifications is intended to help customers to refresh their knowledge.

	RNAi Mechanism This article outlines the process of RNA interference (RNAi), the steps involved in the production of siRNA and the precise structure of key proteins.