Vulto-van Silfhout A.T.,Radboud University Nijmegen |
van Ravenswaaij C.M.A.,University of Groningen |
Hehir-Kwa J.Y.,Radboud University Nijmegen |
Verwiel E.T.P.,Radboud University Nijmegen |
And 5 more authors.
European Journal of Medical Genetics | Year: 2013
The European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA, www.ecaruca.net) is an online database initiated in 2003 that collects and provides detailed, curated clinical and molecular information on rare unbalanced chromosome aberrations. ECARUCA now contains over 4800 cases with a total of more than 6600 genetic aberrations and has over 3000 account holders worldwide. Recently, the ECARUCA web site was renewed, including the presentation of interesting case reports in collaboration with the European Journal of Medical Genetics. This article gives an overview of the current status and future plans of the online ECARUCA database. © 2013 Elsevier Masson SAS.
Cartagenia | Date: 2013-08-06
Computer software and recorded computer programs for searching for, processing, analyzing, interpreting, visualizing, validating, managing, importing, exporting and reporting data in the field of genetic and clinical data; computer software for analyzing large lists of patient genome variants in the field of genetic diagnosis. Writing, development, updating and design of computer software; technical support relating to the use of software, namely, troubleshooting of computer software problems; hosting of online platforms in order to explore and confirm hypotheses and to efficiently report lab results and analyses of lab results in the field of genetics; providing non-downloadable software for storing large numbers of variants, samples, patients, phenotype information and lab reports and computerized analysis tools for producing lab reports online; providing non-downloadable software for storing large numbers of variants, samples, patients, phenotype information and lab reports and computerized analysis tools to producing lab reports on platforms where users may access and use software, computer networks, computer servers, and computer and data storage systems; providing scientific information via web-based platforms relating to genetics.
News Article | June 20, 2015
- Customers of Cartagenia's Bench Lab NGS software platform now have option to access N-of-One Clinical Interpretation uniquely specific to each patient's molecular profile BOSTON, March 17, 2015 /PRNewswire/ -- Cartagenia, leader in providing clinical genetics and pathology labs with variant assessment & reporting support software, today announced a partnership with Lexington, MA-based N-of-One, an industry-leading provider of patient-specific Clinical Interpretation for molecular profiles at the disease, gene and variant level. With the availability of N-of-One's services from within the Bench Lab NGS software platform, pathology genetics laboratories can now integrate N-of-One Clinical Interpretation based on genomic profiling and tumor information into their somatic variant analysis and reporting workflow. N-of-One Clinical Interpretation saves pathologists and physicians hours of research and preparation time per patient, without sacrificing quality. N-of-One Clinical Interpretation delivers scientific and clinical evidence that supports possible therapeutic strategies relevant to each specific patient case. N-of-One Clinical Interpretation can be configured to easily and efficiently integrate into an organization's reporting needs. The N-of-One Clinical Interpretation services are complementary to the capabilities Cartagenia provides with the Bench Lab NGS platform, noted Steven Van Vooren, scientific co-founder of Cartagenia. "No tumor is exactly the same - and N-of-One has a team of experts that provides exactly those deep and patient-specific insights our pathology lab customers need," Van Vooren said. "Labs automate their somatic variant assessment SOPs on our software platform to identify variants that are relevant to further review, and now can look to N-of-One to provide tailored, patient-specific insights that will efficiently support the pathologists in providing physicians with the relevant information regarding drugs, trials and treatment options. Labs can include configurable N-of-One Clinical Interpretation in their lab reports in a single, controlled and supervised workflow." To enable this partnership, Cartagenia has created the infrastructure necessary to integrate a lab's internal knowledge with external information, such as publicly available databases, data shared between collaborating labs, and partner services. Labs can now bring together their proprietary expert knowledge – from their own curation efforts, literature review, and previous findings from other samples – with up-to-date, tailored content on treatment options. Herman Verrelst, Cartagenia's CEO, states: "NGS is rapidly being adopted as a standard test in pathology labs. Our customers derive great value from complementing their internal knowledge bases with up-to-date, high-quality interpretation and insights that help physicians assess treatment options. We are very excited to work with N-of-One as their team of in-house PhD and MD experts deliver industry-leading, clinical and scientific evidence tailored to each cancer patient's molecular profile." "Cartagenia serves a broad customer base of leading clinical genetics and pathology laboratories that value an efficient diagnostic workflow," said Chris Cournoyer, CEO of N-of-One. "We are excited to partner with Cartagenia. The integration of our Clinical Interpretation services into Cartagenia's clinical-grade software platform for variant assessment support will allow clinical laboratories to keep up with the scale and pace of change in knowledge, and support their physicians in patient treatment planning." N-of-One and Cartagenia will promote the partnership by cooperating on marketing initiatives to inform customers of the benefits and advantages of the joint use of each company's solutions. Cartagenia will be showcasing the availability of N-of-One's Clinical Interpretation services through the Bench Lab NGS software platform at the upcoming American College of Medical Genetics annual clinical meeting (ACMG 2015) on March 25-27 at the Salt Palace Convention Center in Salt Lake City, Utah. About Cartagenia Cartagenia supplies variant assessment support and lab report automation software, database systems, and related services to genetic labs, pathology labs and clinicians, enabling them to perform clinically relevant genetic analyses quickly and efficiently, and offer patients and carers high-quality genetic interpretation and counselling. Cartagenia Bench Lab allows automation of variant assessment protocols and lab report generation for structural and molecular variant assays such as Arrays, Sanger and Next Generation Sequencing. It supports communication with referring physicians, allows labs and clinicians to put variants in their clinical context, and supports confident data sharing. The Cartagenia Bench platform is built in collaboration with genetics labs and clinical experts involved in routine medical practice. Because of this, Bench Lab addresses the specific needs of genetic diagnostic labs and clinicians. Cartagenia Bench is built using a certified ISO13485 Quality Management System and is registered with the FDA as an exempt Class I Medical Device in the United States and as a Class I Medical Device in Europe in conformity with the essential requirements and provisions of the Council Directive 93/42/EEC concerning medical devices, and with the relevant harmonized standards EN ISO62304. About N-of-One N-of-One, a leader in enabling precision medicine for oncology, leverages its world-class team of experts coupled with a highly proprietary platform that allows us to provide clinical solutions and services, such as molecular interpretation, to clinicians at the point of care. N-of-One's team of experts has interpreted thousands of samples for oncologists and patients worldwide, through partnerships with leading diagnostic companies, hospital systems, directly to oncologists and through employee access benefit programs. N-of-One does not provide medical advice or promote any product or service. For more information, please visit www.n-of-one.com or call 617-202-9808.
News Article | May 29, 2014
Cartagenia, a Leuven, Belgium-, and Cambridge, MA-based provider of clinical-grade solutions for genomic assay interpretation and lab reporting to diagnostic genetics labs, clinicians and hospitals, closed a $5.9m (€4.25m) financing round. Backers included existing shareholders Capricorn ICT Arkiv, the Flemish investment company PMV and Gemma Frisius Fund, the venture fund of the University of Leuven, as well as member of the management team. The company intends to use the funds to expand its efforts to commercialize the Cartagenia Bench platform in key markets including North America and Europe as well as to extend its product portfolio in Oncology and Reproductive Health. Led by Herman Verrelst, CEO, Cartagenia provides the Bench Lab, a medical device Software-as-a-Service solution designed for interpretation support, lab reporting, and data sharing for clinical genetic testing applications. Supported clinical applications of NGS, Sanger and array testing include constitutional and rare disease, prenatal diagnosis and screening, and germline and somatic oncology assays. The suite is complemented with solutions for electronic assay requisition and lab reporting to referrers through Bench Portal, and tools for integrating it with hospital and lab informatics, such as LIMS and EHR systems. The company currently serves more than 120 labs and clinics across North America, Europe and Australia.
Ageing with elegans - Validating C. elegans healthspan model for better understanding factors causing health and disease, to develop evidence based prevention, diagnostic, therapeutic and other strategies.
Agency: Cordis | Branch: H2020 | Program: RIA | Phase: PHC-01-2014 | Award Amount: 7.31M | Year: 2015
Healthspan (the life period when one is generally healthy and free from serious disease) depends on nature (genetic make-up) and nurture (environmental influences, from the earliest stages of development throughout life). Genetic studies increasingly reveal mutations and polymorphisms that may affect healthspan. Similarly, claims abound about lifestyle modifications or treatments improving healthspan. In both cases, rigorous testing is hampered by the long lifespan of model organisms like mice (let alone humans) and the difficulty of introducing genetic changes to examine the phenotype of the altered genome. We will develop C. elegans as a healthspan model. Already validated extensively as an ageing model, this organism can be readily modified genetically, and effects of environmental manipulations on healthspan can be measured in days or weeks. Once validated as a healthspan model, it can be used for an initial assessment of preventive and therapeutic measures for humans, as well as for risk identification and the initial evaluation of potential biomarkers. It will also prove useful to study interactions between genetic and various environmental factors.