BeyondSeq Project This work holds significant implications for research into the underlying causes of disease. The technology being developed within BeadsOnString will also be used in the BeyondSeq project, an EC-funded initiative that Dr Ebenstein is coordinating. Researchers from seven groups around Europe aim to use the concept of looking at individual DNA molecules in order to improve the diagnosis of specific conditions, including several types of cancer, rare genetic disease and cases of infection by antibiotic resistant bacteria. “The objective is to develop new technologies to provide complementary solutions to sequencing and thus analyze the hidden dimension of genetic mutations,” says Dr Ebenstein. Emerging
At a glance Full Project Title Genomic diagnostics beyond the sequence (BeyondSeq) Project Objectives The goal of the BeyondSeq project is to bridge the technological gap between cytogenetic diagnostics, which can identify chromosomal aberrations, and next generation sequencing (NGS), which can detect single base-pair mutations. The mission of the participants in this project will be to develop a set of tools, from systems for extracting long DNA molecules and preparing samples through to analysis software to interpret genetic information. Project Funding 6 million euros Project Partners Tel Aviv University, Israel · Technion – Israel Institute of Technology, Israel · Chalmers University of Technology, Sweden · Lund University, Sweden · University of Leuven, Belgium · The University of Birmingham, United Kingdom · Genomic Vision, France · Impasara Limited, United Kingdom Contact Details Principle investigator, Dr Yuval Ebenstein School of chemistry Tel Aviv University Israel T: +972-3-6408901 E: uv@post.tau.ac.il W: www.beyondseq.eu
Dr Yuval Ebenstein
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optical DNA mapping technologies will be used to analyse long, individual DNA molecules, with the aim of providing medically relevant genomic information. “The project will establish a robust platform and workflow for integrated genetic and epigenetic profiling of single DNA molecules. We will also develop a set of specific diagnostic assays based on optical mapping of individual DNA molecules,” outlines Dr Ebenstein. “We plan to look towards early stage commercialization of reagents, prototype DNA barcoding devices and data analysis software based on the outcome of proof of principle demonstrations.” The ultimate goal of the project is to translate recent scientific breakthroughs
in optical genome mapping into diagnostic applications. This work could eventually have a significant impact on healthcare, helping improve diagnosis of several different conditions. “The methods and tools developed in the BeyondSeq project will seed a wide range of novel, genebased diagnostic platforms, all based on single-molecule analyses. We expect that most of the technologies developed in this framework will be directly translatable via new or existing ventures, and will have an immediate impact on healthcare,” says Dr Ebenstein. “They will provide faster, lower-cost and broadly accessible molecular diagnostic platforms for early detection of cancers, infections and other diseases.”
BeyondSeq Focus The main focus of Dr Ebenstein’s group is single-molecule genomics, but they are also working to develop new optical detection schemes and novel imaging techniques. The group explores genomes, utilizing tools and reagents from the realm of nanotechnology, aiming to learn new things about these systems by zooming in on individual elements – single cells, single chromosomes and single molecules. Research in the laboratory is highly multi- and inter-disciplinary and the team is comprised of chemists, biologists and physicists who are interested in learning from each other and doing some great work at the very forefront of science. The laboratory specializes in many areas of optical imaging and spectroscopy, with a particular emphasis on single molecule detection and the development of imaging based techniques. The research is focused on the application of novel imaging and optical detection approaches to genomic studies and biomarker detection. Researchers are developing new spectroscopy and microscopy methodologies that combine advanced optics with tools and reagents from the realm of nanotechnology. In addition, the group is deeply interested in developing unique biochemistries for genomic analysis that are based on chemoenzymatic reactions.
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