Zebrafish genetic screens and gne myopathy

Introduction A new and exciting phase of muscle disease research has recently been entered. The application of next generation sequencing technology has spurred an unprecedented era of gene discovery for both myopathies and muscular dystrophies. Gene-based therapies for Duchenne muscular dystrophy have entered clinical trial, and several pathway-based therapies are doing so as well for a handful of muscle diseases.

Zebrafish genetic screens and gne myopathy

This conference, held in Februaryis the culmination of the most exciting research performed in Israel in a variety of biological disciplines. BoxTel Aviv, Israel Tel: Kim received her Ph. Early bird session of Eldan Electronic Instruments Co.

Zebrafish genetic screens and gne myopathy

The quality of the library screen is strongly dependent on the quality of the input library. Based on Agilent s capability to synthesize up to 2. The session will present the procedures and tools required to generate highest quality plasmid libraries from complex oligomer pools.

Next generation sequencing analysis of free circulating DNA from plasma has quickly been adopted for cancer testing as well as for noninvasive prenatal testing NIPT.

For cancer patients, this method enables the noninvasive diagnosis of actionable mutants to select a personalized anti-tumor therapy and could be used to monitor molecular changes upon cancer treatment or during tumor progression.

The concentration of free circulating DNA in liquid biopsies usually is very low, which makes it very important to apply optimized protocols for cfdna extraction as well as NGS DNA library construction to successfully establish robust test systems.

In this scientific talk, we will introduce new technical solutions for Ion Torrent as well as Illumina sequencing platforms that combine optimized cfdna isolation, highly advanced library construction, unbiased library amplification and integrated data analysis to sensitively and reliably analyze cfdna samples.

Zebrafish Models of Congenital Myopathy

Early Bird session of Zotal Herods hotel - Kings hall B Session participants will be enrolled in a lottery having the chance to win a tablet. Lexogen s QuantSeq 3 mrna-seq system offers a comprehensive and highly affordable solution for whole transcriptome GEX analyses: Since only 1 fragment per transcript is generated, FPKM calculations are unnecessary, and a recommended read depth of million short, single-end reads per sample is sufficient for expression profiling of eukaryotic transcriptomes.

Cisbio-Zotal Cisbio Bioassays develops and markets products and technologies used in life sciences and diagnostics. Based on this highly robust and reliable format, Cisbio Bioassays offers first class assays and services for drug discovery researchers, from basic research to all steps of new lead identification and optimization.

It can also help in your drug development process like HTS or leads optimization. Our scientists are ready to help you to develop custom kit that will perfectly fit your needs. Field Application Specialist, nanostring Technologies The digital NanoString ncounter technology enables you to count up to molecules per sample in a highly multiplexed fashion.

To meet the need for multi-analyte profiling in for example tumor biology, NanoString Technologies has expanded its single-molecule digital barcoding system to recognize DNA, RNA, fusions, proteins and phospho-proteins simultaneously from the same sample with its 3D Biology technology.

Detection of DNA e. SNVsRNA, or proteins alone can provide significant information, but when data from multiple experiments are merged the integrated results can lead to novel hypotheses or more solid conclusions.

Examples will be presented how 3D Biology can add extreme value to your research. Less sample, more data, easy to analyze! Early bird session of Mercury Dan hotel - Blue hall B Session participants will be enrolled in a lottery having the chance to win a tablet. Ben Levi Mercury Milliplex Multiplexing is highly validated and sensitive technique, which enables you to achieve reproducible data while saving precious time.Gne depletion during zebrafish development impairs skeletal muscle structure and function Alon Daya.

Alon Daya. 1. Although the mutated gene associated with GNE Myopathy was discovered more than 10 years ago, the mechanism leading from the mutations to the muscle defect remains unexplained. Forward genetic screens have proved to be an excellent source of zebrafish mutants that model human disease.

The first muscle mutants emerged from the original ENU mutagenesis-based screen by Nüsslein-Vollhard and colleagues, and include the first identified zebrafish mutant strains for dystrophin (sapje), titin (runzel) and laminin α2.

Zebrafish model of GNE myopathy: An autosomal recessive adult onset muscular dystrophy caused by mutations in the GNE gene. To understand the exact mechanism of muscle atrophy and degeneration, we identified a missense mutation in gne.

Gne Myopathy Zebrafish Models with Impaired Sialylation (S) | Neurology

Zebrafish, Genetic Screens, and GNE Myopathy Zebrafish have proved themselves to be valuable model organisms within the field of science. Their unique characteristics allow for ease of.

Forward genetic screens have proved to be an excellent source of zebrafish mutants that model human disease.

Zebrafish genetic screens and gne myopathy

The first muscle mutants emerged from the original ENU mutagenesis‐based screen by Nüsslein‐Vollhard and colleagues, and include the first identified zebrafish mutant strains for dystrophin (sapje), titin (runzel) and laminin. We began by using TALE nucleases to generate germ line mutations in the zebrafish selenoprotein N (sepn1) gene, and in doing so created the first vertebrate to accurately model human SEPN1-related myopathy (SEPN1-RM).

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