Institute for Genomic Medicine

La Jolla, CA, United States

Institute for Genomic Medicine

La Jolla, CA, United States

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SAN DIEGO & NEW HAVEN, Conn.--(BUSINESS WIRE)--The Rady Children’s Institute for Genomic Medicine (RCIGM) and Alexion Pharmaceuticals, Inc. (NASDAQ:ALXN) today announced a strategic partnership to accelerate the diagnosis of critically-ill newborns with rare genetic disorders. The collaboration combines the Institute’s genomic research expertise with Alexion data science and bioinformatics capabilities to advance precision medicine for infants in an intensive care setting. “Diagnosing acutely ill babies is a race against the clock, so it’s essential for physicians to have access to solutions that will provide answers faster and help set the course of treatment,” said Stephen Kingsmore, MD, DSc, President and CEO of the Institute. “Winning this race will require collaborative effort, which is why we are delighted to work with the people at Alexion who share our vision for unraveling the mysteries of genetic disease and giving hope to families with critically sick newborns.” There is great need for employing such technology in medicine. As many as 15 percent of babies born in the United States are admitted to neonatal or pediatric intensive care units (NICU/PICU). Among these infants, up to one-third are likely to be affected by genetic diseases or congenital anomalies which are also the leading cause of death among babies in the NICU. 1-11 Rapid diagnosis through genome sequencing can provide definitive answers, allowing physicians to provide timely, targeted treatment that can help prevent a needless diagnostic odyssey and improve medical outcomes. The rapidly falling cost of whole-genome sequencing increases the feasibility for clinical testing for rare genetic diseases. However, the amount and complexity of data continues to grow. “In rare diseases, rapid diagnosis is made all the more challenging by the significant amount of genomic and phenotypic data a clinician must sift through to reach a diagnosis,” said John Reynders, PhD, Vice President of Data Sciences, Genomics, and Bioinformatics at Alexion. “This collaboration will help accelerate an accurate diagnosis for patients with genetic diseases, clarify available paths of intervention and provide hope to families.” Under the partnership, Alexion will share, research and further refine the SmartPanel, a platform developed by Alexion that personalizes and prioritizes suspected rare-disease genes from a patient's next-generation sequenced genome and specific clinical presentation. The Rady Children’s Institute for Genomic Medicine is evaluating the SmartPanel in research to establish positive predictive value, enable electronic medical record (EMR) integration for rapid phenotypic extraction and assess overall patient outcomes via earlier diagnosis. Both organizations will collaborate on patient and disease characterization, algorithmic modules and scalability with a shared goal of contributing core capabilities to the open source community to accelerate research in the challenging area of pediatric rare-disease diagnosis. The institute is leading the way in advancing precision healthcare for infants and children through genomic and systems medicine research. Discoveries at the Institute are enabling rapid diagnosis and targeted treatment of critically ill newborns and pediatric patients at Rady Children’s Hospital-San Diego. The vision is to develop an integrated process that can be expanded to deliver precision pediatric medicine at children’s hospitals in California, the nation and the world. RCIGM is a division of Rady Children’s Hospital-San Diego. Learn more at www.RadyGenomics.org. Rady Children’s Hospital-San Diego is a 551-bed pediatric care facility providing the largest source of comprehensive pediatric medical services in San Diego, Southern Riverside and Imperial counties. Rady Children’s is the only hospital in the San Diego area dedicated exclusively to pediatric healthcare and is the region’s only designated pediatric trauma center. In June 2016, U.S. News & World Report ranked Rady Children’s among the best children’s hospitals in the nation in nine pediatric specialties. Rady Children’s is a nonprofit organization that relies on donations to support its mission. For more information, visit www.rchsd.org and find us on Facebook, Twitter and Vimeo. Alexion is a global biopharmaceutical company focused on developing and delivering life-transforming therapies for patients with devastating and rare disorders. Alexion is the global leader in complement inhibition and has developed and commercializes the first and only approved complement inhibitor to treat patients with paroxysmal nocturnal hemoglobinuria (PNH) and atypical hemolytic uremic syndrome (aHUS), two life-threatening ultra-rare disorders. In addition, Alexion’s metabolic franchise includes two highly innovative enzyme replacement therapies for patients with life-threatening and ultra-rare disorders, hypophosphatasia (HPP) and lysosomal acid lipase deficiency (LAL-D). Alexion is advancing its rare disease pipeline with highly innovative product candidates in multiple therapeutic areas. This press release and further information about Alexion can be found at: www.alexion.com.


Oakland, Kalifornien und BOSTON und KOPENHAGEN, Dänemark--(BUSINESS WIRE)--Fabric Genomics, ein weltweit tätiges Unternehmen für Computergenomik, das Tools für Datenanalysen und klinische Berichte anbietet, hat heute eine Partnerschaft mit dem Datenverwaltungsunternehmen ITTM S.A. (Information Technology for Translational Medicine, Informationstechnologie für die Translationsmedizin) bekanntgegeben. Gemeinsam will man sichere Möglichkeiten zum Webhosting von Genomdaten für Kunden in der EU anbieten. Durch die Verbindung der führenden Analysetools von Fabric Genomics mit den bewährten, sicheren Lösungen von ITTM für Hosting und Infrastruktur schaffen wir erstklassige Lösungen für Genomtechnologie und Datenschutz für Patienten in klinischen Labors, bei Pharmafirmen und Genomprojekten. Die Analysetools von Fabric Genomics werden bereits von Kunden in der EU genutzt. Das 100.000 Genomes Project von Genomics England etwa ist ein bahnbrechendes Projekt für landesweite Genomsequenzierung mit Schwerpunkt auf seltenen Erkrankungen und Krebs. Unsere klinische Plattform Opal hat mehr als 500 klinische Berichte für das 100.000 Genomes Project geliefert, mit dem Ziel der Verbesserung therapeutischer Behandlungen durch die Genommedizin. Fabric Genomics expandiert in der EU; die Erfolgsbilanz des Unternehmens umfasst hier Kunden wie LabCorp, eines der größten Referenzlabore in den USA, das Rady Children’s Institute for Genomic Medicine, das unter der Leitung von Dr. Stephan Kingsmore eines der herausragendsten klinischen Genomzentren für die Pädiatrie ist, sowie das Vanderbilt University Medical Center, ein klinischer Standort für das UDN (Undiagnosed Disease Network, Netzwerk für nicht diagnostizierte Krankheiten) des National Institute of Health. „Wir haben uns aufgrund der Expertise des Unternehmens mit schnellen und präzisen Genomanalysen für Fabric Genomics als einen unserer zentralen NGS-Partner für den EU-Markt entschieden”, sagte Andreas Kremer, Ph.D., Mitgründer und General Manager von ITTM. „NGS-Tests verbreiten sich in Europa zusehends, und es gibt einen Bedarf für die Interpretation von Genomdaten der Patienten in einem sicheren Umfeld. Immer mehr Kliniker sequenzieren Patientendaten für seltene Erkrankungen und Krebs, und es besteht Bedarf für schnelle und präzise Interpretationen dieser Daten. In einigen EU-Ländern verbieten Vorschriften den Transfer persönlicher Daten über Grenzen hinweg. Wir freuen uns also sehr, dass wir die optimalen Hosting-Dienste für diejenigen Kunden liefern können, die keine eigenen Server haben.” Fabric Genomics™ ist ein weltweit tätiges Unternehmen für Computergenomik, das Komplettlösungen für Analysen, Kommentare, Kuratierung, Klassifizierung und Berichte für Genomdaten für klinische Labore, Krankenhauslabore und landesweite Sequenzierungsprogramme sowie Unternehmen im Bereich der Biowissenschaften anbietet. Die Analysemöglichkeiten von Fabric Genomics beginnen mit der Analyse von Rohdaten und umfassen die Bereitstellung schneller, umfassender Einblicke für Panels mit hohem Datendurchsatz, Exome und ganze Genome. Unsere Software kann FASTQ-, BAM- oder VCF-Dateien verarbeiten und liefert Abstimmung, Variantenbestimmung, richtliniengestützte Variantenklassifizierung, Varianteninterpretation und klinische Berichte für Erbkrankheiten und Onkologie. Unsere bahnbrechende Biograph-Technologie ermöglicht die präzise Erkennung struktureller Varianten und bietet Möglichkeiten zum Daten-Mining im Maßstab ganzer Bevölkerungen. Fabric Genomics wurde von Wissenschaftlern und Branchenpionieren aus den Bereichen Bioinformatik, Genomik im großen Maßstab und Molekulardiagnostik gegründet und hat seinen Hauptsitz in Kalifornien. Durch die Beschleunigung des Zugangs zu Einblicken im Zusammenhang mit den Ursachen genetisch bedingter Erkrankungen steht Fabric Genomics in der Präzisions-Gesundheitsversorgung an der Spitze. Folgen Sie uns auf Twitter, LinkedIn und Facebook.


Las herramientas del análisis de Fabric Genomics ya son utilizadas por los clientes de la UE, como el proyecto 100.000 genomas de Genomics England, un programa de secuenciación nacional de genoma revolucionario que se centra en enfermedades raras y cáncer. Nuestra plataforma Opal Clinical ha desarrollado más de 500 informes clínicos para el proyecto 100.000 genomas, para mejorar los tratamientos terapéuticos a través de la medicina genómica. Fabric Genomics se está desarrollando en la UE como lo demuestra la evidente expansión de su cartera de clientes, como LabCorp, uno de los laboratorios de referencia más grandes de Estados Unidos; el Rady Children’s Institute for Genomic Medicine, uno de los centros clínicos más importantes de la genómica pediátrica dirigido por el Dr. Stephan Kingsmore; y el Vanderbilt University Medical Center, un centro clínico de la red de enfermedades no diagnosticadas (Undiagnosed Disease Network, UDN) de National Institutes of Health.


OAKLAND, Calif. & BOSTON & COPENHAGEN, Denmark--(BUSINESS WIRE)--Fabric Genomics, a global computational genomics company offering data analysis and clinical reporting tools, announced today that it has partnered with data management company ITTM S.A. (Information Technology for Translational Medicine) to provide secure genomic data hosting capabilities for EU customers. By combining Fabric Genomics’ leading analysis tools with ITTM’s proven secure hosting and infrastructure solutions, we bring best-in-class genomic technology and patient privacy solutions to clinical labs, pharmaceutical companies, and genome projects. Fabric Genomics’ analysis tools are already used by EU customers, such as Genomics England’s 100,000 Genomes Project, a groundbreaking genomic country sequencing program that focuses on rare diseases and cancer. Our Opal Clinical platform has delivered more than 500 clinical reports for the 100,000 Genome Project, with a goal of improving therapeutic treatments through genomic medicine. Fabric Genomics is expanding in the EU with a proven track record of customers such as LabCorp, one of the biggest reference labs in the US, Rady Children’s Institute for Genomic Medicine, one of the most prominent pediatric clinical genomic centers led by Dr. Stephan Kingsmore, and Vanderbilt University Medical Center, a clinical site for the National Institutes of Health’s UDN (Undiagnosed Disease Network.) “ITTM is an important strategic partner to help us expand our NGS analysis tools in the EU. We are impressed by ITTM’s commitment to security and patient privacy, as well as their leadership in genomics data storage,” said Mathias Klozenbuecher, VP of Business Development for Fabric Genomics. “Our Opal Clinical platform for NGS interpretation of panels, exomes and genomes for hereditary diseases and oncology is widely used around the world and continues to become the gold standard of interpretation for clinical labs, research institutions, hospitals, and country genome programs.” “We selected Fabric Genomics as a key NGS collaborator for the EU market because of their expertise in rapid and accurate genomic analysis,” said Andreas Kremer, Ph.D., co-founder and General Manager of ITTM. “NGS testing is growing in Europe, and there is a need for the interpretation of genomic patient data in a secure environment. More and more clinicians are sequencing patient data for rare diseases and cancer, and there is a need to quickly and accurately interpret this data. In some EU countries, regulations prohibit the transfer of personal data across borders, so we are thrilled to provide optimal hosting services to those customers who do not have their own servers.” Reinhard Schneider, Head of the Bioinformatics Core Facility at the University of Luxembourg’s LCSB said, “Offering Fabric Genomics’ services through the ITTM platform brings world-class clinical NGS data interpretation services to the EU.” Fabric Genomics’ platform is a scalable end-to-end genomic data analysis solution, offering secondary analysis, tertiary analysis, and clinical reporting. Our industry-leading secondary analysis tools process genomic data with high computing efficiency, fast turnaround times, exceptional accuracy, and 100% consistency. Opal Clinical, our tertiary analysis tool for interpretation, classification, and annotation, utilizes proprietary VAAST and Phevor algorithms to help identify casual mutation(s) in high complexity cases such as pediatric diagnostic odysseys and country sequencing projects. Fabric Genomics™ is a global computational genomics company offering end-to-end genomic data analysis, annotation, curation, classification, and reporting solutions to clinical labs, hospital labs, country sequencing programs, and life science companies. Fabric Genomics’ analytic capabilities begin with raw data analysis and include the delivery of rapid, comprehensive insights for high throughput panels, exomes, and whole genomes. Our software can process FASTQ, BAM or VCF files, providing alignment, variant calling, guideline-driven variant classification, variant interpretation, and clinical reporting for hereditary diseases and oncology. Our breakthrough Biograph technology enables accurate detection of structural variants and provides population-scale data mining capabilities. Fabric Genomics was founded by scientists and industry pioneers in bioinformatics, large-scale genomics and molecular diagnostics and is headquartered in California. By accelerating access to insights related to the cause of genetic diseases, Fabric Genomics is leading the way in precision healthcare. Follow us on Twitter, LinkedIn and Facebook. ITTM S.A. is a spin-off company of the Luxembourg Centre for Systems Biomedicine (LCSB) of the University of Luxembourg. They provide data integration and knowledge management solutions and services to all bio-medical research areas. It focuses on providing quality data in the right context especially on translational medicine studies and clinical trials, in which heterogeneous data need to be curated, linked and integrated. ITTM S.A. offers cutting-edge clinical and multi-omics data analysis, visualization and text-mining solutions. For more information about ITTM, please visit www.ittm-solutions.com.


OAKLAND, Californië en BOSTON en KOPENHAGEN, Denemarken--(BUSINESS WIRE)--Fabric Genomics, een wereldwijd rekenkundig genomicabedrijf dat data-analyse en klinische rapportagetools aanbiedt, heeft vandaag aangekondigd dat het gaat samenwerken met het datamanagementbedrijf ITTM S.A. (Information Technology for Translational Medicine) voor het leveren van veilige genomische data hostingmogelijkheden voor Europese klanten. Door het combineren van de toonaangevende analysetools van Fabric Genomics met de bewezen veilige hosting- en infrastructuuroplossingen van ITTM, kunnen we nu de beste genomische technologie en patiëntprivacyoplossingen in haar klasse leveren aan klinische laboratoria, farmaceutische bedrijven en genoomprojecten. De analysetools van Fabric Genomics worden nu al door Europese klanten gebruikt, zoals bij het Genomics England's 100,000 Genomes Project, een baanbrekend genomisch landspecifiek sequencingprogramma dat zich richt op zeldzame ziekten en kanker. Ons Opal Clinical platform heeft inmiddels meer dan 500 klinische rapporten afgeleverd voor het 100,000 Genome Project, met als doel het verbeteren van therapeutische behandelingen middels genomische geneesmiddelen. Fabric Genomics breidt uit in de EU met een bewezen track record van klanten, zoals LabCorp, een van de grootste referentielaboratoria in de VS, Rady Children's Institute for Genomic Medicine, een van de prominentste pediatrische klinische genomische centra dat door Dr. Stephan Kingsmore wordt geleid, en Vanderbilt University Medical Center, een klinische vestiging voor de National Institutes of Health's UDN (Undiagnosed Disease Network). "ITTM is een belangrijke strategische partner bij het uitbreiden van onze NGS-analysetools in de EU. Wij zijn onder de indruk van ITTM's toewijding aan de veiligheid en de patiëntprivacy, maar ook van hun leiderschap wat betreft de opslag van genomische gegevens," zegt Mathias Klozenbuecher, vicepresident bedrijfsontwikkeling bij Fabric Genomics. "Ons Our Opal Clinical platform voor NGS-interpretatie van panelen, exomen en genomen voor erfelijke ziekten en oncologie, wordt wereldwijd gebruikt en blijft de gouden standaard wat betreft interpretatie voor klinische laboratoria, onderzoeksinstellingen, ziekenhuizen en landgenoomprogramma's." "We hebben voor Fabric Genomics gekozen als belangrijke NGS-partner voor de Europese markt vanwege hun expertise op het gebied van snelle en accurate genomische analyse," zegt Andreas Kremer, Ph.D., mede-oprichter en algemeen manager bij ITTM. "NGS-testing groeit in Europa, en er is behoefte aan de interpretatie van genomische patiëntgegevens in een veilige omgeving. Steeds meer artsen sequencen patiëntgegevens op zeldzame ziekten en kanker, en deze data moet snel en accuraat worden geïnterpreteerd. In sommige Europese landen mogen persoonlijke gegevens volgens de wet niet de landsgrenzen over. Daarom zijn wij erg blij dat we optimale hosting kunnen aanbieding aan die klanten die geen eigen servers hebben." Fabric Genomics™ is een wereldwijd rekenkundig genomicabedrijf dat end-to-end genomische data-analyse, annotatie, curatie, classificatie en rapportageoplossingen aanbiedt aan klinische laboratoria, ziekenhuislaboratoria, landspecifieke sequencingprogramma's en bedrijven in de levenswetenschappen. De analytische mogelijkheden van Fabric Genomics beginnen met ruwe gegevensanalyse en omvatten de levering van snelle, omvangrijke inzichten voor hoge doorvoer panelen, exomen en hele genomen. Onze software is compatibel met FASTQ-, BAM- of VCF-bestanden en biedt afstemming, variant oproep, richtlijngedreven classificatie van varianten, variant interpretatie en klinische rapportage voor erfelijke ziekten en oncologie. Met onze baanbrekende Biograph-technologie wordt accurate detectie van structurele varianten mogelijk en biedt data-mining mogelijkheden op bevolkingsschaal. Fabric Genomics is opgericht door wetenschappers en pioniers in bioinformatica, large-scale genomica en moleculaire diagnostiek en heeft haar hoofdkantoor in Californië. Door toegang tot inzichten te verbeteren, gerelateerd aan de oorzaak van genetische ziekten, leidt Fabric Genomics op het gebied van nauwgezette gezondheidszorg. Volg ons op Twitter, LinkedIn en Facebook. ITTM S.A. is een spin-off onderneming van het Luxembourg Centre for Systems Biomedicine (LCSB) van de Universiteit van Luxemburg. Zij bieden data-integratie en kennismanagementoplossingen en diensten voor alle bio-medische gebieden. Het richt zich op het leveren van kwaliteitsgegevens in de juiste context, met name op het gebied van translationeel medisch onderzoek en klinische onderzoeken, waar heterogene data moeten worden samengesteld, gekoppeld en geïntegreerd. ITTM S.A. biedt toonaangevende klinische en multi-omics data-analyse, visualisatie en tekst-mining oplossingen. Ga voor meer informatie over ITTM naar www.ittm-solutions.com. Deze bekendmaking is officieel geldend in de originele brontaal. Vertalingen zijn slechts als leeshulp bedoeld en moeten worden vergeleken met de tekst in de brontaal, die als enige rechtsgeldig is.


News Article | May 25, 2017
Site: www.marketwired.com

Awarding outstanding examples of technology innovation in the life sciences, from basic R&D to translational medicine since 2003 NEEDHAM, MA--(Marketwired - May 25, 2017) - Bio-IT World has announced the winners of the 2017 Best Practices Awards this morning at the Bio-IT World Conference and Expo in Boston, MA. Entries from Maccabi Healthcare System, Rady Children's Institute for Genomic Medicine, Allotrope Foundation, Earlham Institute, Biomedical Imaging Research Services Section (BIRSS), and Alexion Pharmaceuticals were honored. Since 2003, the Bio-IT World Best Practices Awards has honored excellence in bioinformatics, basic and clinical research, and IT frameworks for biology and drug discovery. Winners were chosen in four categories, and two discretionary awards this year as well. "Looking back at the fourteen years since our first Best Practices competition, I am amazed by how far the bio-IT field has come. I continue to be inspired by the work done in our field," said Bio-IT World Editor Allison Proffitt. "The Bio-IT World Community is increasingly open, and the partnerships and projects showcased here prove our dedication to collaborative excellence." Bio-IT World debuted the Best Practices Awards at the second Bio-IT World Conference & Expo in 2003, hoping to not only elevate the critical role of information technology in modern biomedical research, but also to highlight platforms and strategies that could be widely shared across the industry to improve the quality, pace, and reach of science. In the years since, hundreds of projects have been entered in the annual competition, and over 80 prizes have been given out to the most outstanding entries. This year, a panel of eleven invited expert judges joined the Bio-IT World editors in reviewing detailed submissions from pharmaceutical companies, academic centers, government agencies, and technology providers. The awards ceremony was held at the Seaport World Trade Center in Boston, where the winning teams received their prizes from Proffitt, veteran judge Chris Dwan, and Philips Kuhl, president of conference organizer Cambridge Healthtech Institute. In October 2015, Maccabi Healthcare System joined forces with Medial EarlySign to implement advanced AI and machine learning algorithms to uncover the "hidden" signals within electronic medical records (EMRs) and identify unscreened individuals at high risk of harboring Colorectal Cancer. The system used existing EMR Data only, including routine blood counts. ColonFlag evaluated nearly 80,000 outpatient blood count tests results collected over one year, and flagged 690 individuals (approximately 1%) as highest risk population for further evaluation. Of those, 220 colonoscopies were performed, of which 42% had findings including 20 cancers (10%). Precision medicine for newborns by 26-hour Whole Genome Sequencing Genetic diseases, of which there are more than 5,000, are the leading cause of death in infants, especially in Neonatal Intensive Care Units (NICU) and Pediatric Intensive Care Units (PICU). The gateway to precision medicine and improved outcomes in NICUs/PICUs is a rapid genetic diagnosis. Diagnosis by standard methods, including whole genome sequencing (WGS), is too slow to guide NICU/PICU management. Edico Genome, Rady Children's Institute for Genomic Medicine, and Illumina have developed scalable infrastructure to enable widespread deployment of ultra-rapid diagnosis of genetic diseases in NICUs and PICUs. First described in "A 26-hour system of highly sensitive WGS for emergency management of genetic diseases" in September 2015, we have now improved and implemented this infrastructure at Rady Children's Hospital (RCH). Among the first 48 RCH infants tested, 23 received diagnoses and 16 had a substantial change in NICU/PICU treatment. We are currently equipping other children's hospitals to emulate these results. The Allotrope Framework: A holistic set of capabilities to improve data access, interoperability and integrity through standardization, and enable data-driven innovation The Allotrope Framework is comprised of a technique-, vendor-, and platform-independent file format for data and contextual metadata (with class libraries to ensure consistent implementation); Taxonomies and Ontologies- an extensible basis of a controlled vocabulary to unambiguously describe and structure metadata; and Data Models that describe the structure of the data. Member companies, collaborating with vendor partners, have begun to demonstrate how the Framework enables cross-platform data transfer, facilitates finding, accessing and sharing data, and enables increased automation in laboratory data flow with a reduced need for error-prone manual input. The first production release is available to members and partners (as of Q4 2015), and phased public releases of the framework components will become available beginning mid-2017. Improving Global Food Security and Sustainability By Applying High-Performance Computing To Unlock The Complex Bread Wheat Genome One of the most important global challenges to face humanity will be the obligation to feed a world population of approximately nine billion people by 2050. Wheat is grown on the largest area of land of any crop at over 225 million hectares, and over two billion people worldwide are dependent on this crop as their daily staple diet. Unfortunately, the six primary crop species see up to 40% loss in yield due to plant disease. Furthermore, a changing climate, increased degradation in arable land, reduction in biodiversity through rainforest destruction, and increasing sea levels all contribute to declining crop yields that greatly undermines global food security and sustainability. A solution to this grand challenge is to unlock the complex genomics of important crops, such as bread wheat, to identify the genes that underlie resistance to disease and environmental factors. One of the toughest crops to tackle, bread wheat has a hugely complex genome and is five times bigger than the human genome, with 17 billion base pairs of DNA. By exploiting leading-edge HPC infrastructure deployed at the Earlham Institute (EI), scientists have now assembled the genomic blueprint of the bread wheat genome for the very first time. By analyzing this wheat assembly, breeders worldwide can now begin to explore new variations of wheat that exhibit the very traits that will help improve its durability in the face of dogged disease and climate change. The Biomedical Research Informatics Computing System (BRICS) is a dynamic, expanding, and easily reproducible informatics ecosystem developed to create secure, centralized biomedical databases to support research efforts to accelerate scientific discovery, by aggregating and sharing data using Web-based clinical report form generators and a data dictionary of Clinical Data Elements. Effective sharing of data is a fundamental attribute in this new era of data informatics. Such informatics advances create both technical and political challenges to efficiently and effectively use biomedical resources. Designed to be initially un-branded and not associated with a particular disease, BRICS has been used so far to support multiple neurobiological studies, including the Federal Interagency Traumatic Brain Injury Research (FITBIR) program, the Parkinson's Disease Biomarkers Program (PDBP), and the National Ophthalmic Disease Genotyping and Phenotyping Network (eyeGENE). Supporting the storage of phenotypic, imaging, neuropathological, and genomics data, the BRICS instances currently have more than 31,500 subjects. The Alexion Insight (AI) Engine is a decision support system that provides senior executives and corporate planning staff answers to business and scientific questions across a landscape of approximately 9,000 rare diseases. The AI Engine filters and sorts across key criteria such as prevalence, clinical trials, severity, and onset to prioritize in real-time diseases of interest for targets, line extensions, and business development activity. Over a period of two years Alexion worked with EPAM to develop the AI Engine. The system integrates data from several external data sources into a cloud-based, Semantic Web database. Gaps and errors in publicly available data were filled and corrected by a team of expert curators. The engine supports an interactive, web-based interface presenting the rare disease landscape. The AI Engine has reduced the amount of time required to produce recommendations to senior management on promising disease candidates from a few months to mere minutes. About Bio-IT World (www.Bio-ITWorld.com) Part of Healthtech Publishing, Bio-IT World provides outstanding coverage of cutting-edge trends and technologies that impact the management and analysis of life sciences data, including next-generation sequencing, drug discovery, predictive and systems biology, informatics tools, clinical trials, and personalized medicine. Through a variety of sources including, Bio-ITWorld.com, Weekly Update Newsletter and the Bio-IT World News Bulletins, Bio-IT World is a leading source of news and opinion on technology and strategic innovation in the life sciences, including drug discovery and development. About Cambridge Healthtech Institute (www.healthtech.com) Cambridge Healthtech Institute (CHI), a division of Cambridge Innovation Institute, is the preeminent life science network for leading researchers and business experts from top pharmaceutical, biotech, CROs, academia, and niche service providers. CHI is renowned for its vast conference portfolio held worldwide including PepTalk, Molecular Medicine Tri-Conference, SCOPE Summit, Bio-IT World Conference & Expo, PEGS Summit, Drug Discovery Chemistry, Biomarker World Congress, World Preclinical Congress, Next Generation Dx Summit and Discovery on Target. CHI's portfolio of products include Cambridge Healthtech Institute Conferences, Barnett International, Insight Pharma Reports, Cambridge Marketing Consultants, Cambridge Meeting Planners, Knowledge Foundation Bio-IT World, Clinical Informatics News and Diagnostics World.


MOUNTAIN VIEW, Calif.--(BUSINESS WIRE)--DNAnexus, the global leader in genome informatics and data management, announced that Rady Children’s Institute for Genomic Medicine (RCIGM) in San Diego has adopted the DNAnexus Platform to enable the world’s fastest whole genome data analysis pipeline for pediatric care settings. The work is part of a National Institute of Health (NIH) research program led by Stephen Kingsmore, MD, DSc, President and CEO of RCIGM. RCIGM plans to expand this integrated solution to partners nationally, fostering a growing genomic database that healthcare providers can access to quickly diagnose rare disease in children. DNAnexus is facilitating this goal by providing a flexible and scalable platform for local and distributed sequencing and analysis and enabling a highly optimized end-to-end rapid whole genome solution. At RCIGM, the platform is also being used to securely bank genomic data, work with collaborators and integrate with the Institute’s custom portal and big-data platform. The Institute’s integrated process spans genomic phenotyping through to interpretation of results and allows for data aggregation and synthesis to improve diagnosis, semi-automate reporting and to establish metrics for diagnostic and clinical utility. “Our goal is to ensure that genome-powered precision medicine is available to every child who needs it. To do this, building a research-to-bedside pipeline at a single hospital isn’t enough. We needed a solution that can be scaled up and is accessible anywhere in the world,” said Dr. Kingsmore. “DNAnexus has the technology and expertise to facilitate this ambitious project, allowing us to collaborate in a secure environment.” The NIH Newborn Sequencing In Genomic Medicine and Public Health program addresses how genomic sequencing can replicate or augment known screening results for newborn disorders, what knowledge sequencing can provide for conditions not currently screened, and what additional information could be learned from sequencing relevant to the clinical care of newborns. The NSIGHT program is funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development and the National Human Genome Research Institute components of the National Institutes of Health. "Rady Children’s Institute for Genomic Medicine is a pioneer in the use of genomic data to drive better outcomes for children with inherited diseases, and we are proud to support this cutting-edge work led by Dr. Kingsmore,” said Richard Daly, CEO of DNAnexus. “DNAnexus serves as a secure and compliant network supporting multiple locations and enabling providers such as Rady with the technical platform to expand their network and data analysis capacity globally and in a cost-effective manner.” The Institute is leading the way in advancing precision pediatric medicine by combining ultra-rapid whole genome sequencing with expert analysis and interpretation to speed diagnosis of genetic disease. Research conducted at RCIGM is being used to improve care of critically ill newborns at Rady Children’s Hospital-San Diego. Learn more at www.RadyGenomics.org Rady Children's Hospital-San Diego is a 551-bed pediatric care facility providing the largest source of comprehensive pediatric medical services in San Diego, Southern Riverside and Imperial counties. Rady Children's is the only hospital in the San Diego area dedicated exclusively to pediatric healthcare and is the region's only designated pediatric trauma center. In June 2016, U.S. News & World Report ranked Rady Children's among the best children's hospitals in the nation in nine pediatric specialties the magazine surveyed. Rady Children's is a nonprofit organization that relies on donations to support its mission. For more information, visit www.rchsd.org and find us on Facebook, Twitter and Vimeo. DNAnexus combines expertise in computing and bioinformatics to create the global network for genomics, operating in North America, Europe, Asia-Pacific (including China), South America, and Africa. The secure, scalable, and collaborative DNAnexus Platform helps thousands of researchers across a spectrum of industries – biopharmaceutical, bioagricultural, sequencing services, clinical diagnostics, government, and research consortia – accelerate their genomics programs globally. For more information on DNAnexus, please visit www.dnanexus.com or follow the company @DNAnexus.

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