QIAGEN collaborates with a leading genomics center on a large-scale next-generation sequencing study of rare diseases in children
Oct 23 2013

QIAGEN collaborates with a leading genomics center on a large-scale next-generation sequencing study of rare diseases in children

  • Collaboration with a leading research center aims to accelerate discovery of genomic causes of pediatric diseases, leading to potential new diagnostics and treatments  
  • Ingenuity® Variant Analysis™ helps alleviate a critical bottleneck in discovery and interpretation of causal variants using next-generation sequencing data
  • Genetic mutations drive 80% of rare diseases but remain unknown for many diseases

REDWOOD CITY, California, October 23, 2013 — QIAGEN Redwood City today announced a collaboration with the Center for Applied Genomics (CAG) directed by Hakon Hakonarson MD, Ph.D, an Associate Professor at The Children’s Hospital of Philadelphia, on a large-scale next-generation sequencing (NGS) study to identify causative variants in rare childhood diseases. As part of this collaboration, QIAGEN’s Ingenuity® Variant Analysis (TM) will be integrated into the bioinformatics pipeline of CAG, which operates one of the world’s largest whole exome and whole genome sequencing laboratories and has made numerous discoveries on the causes of pediatric diseases.

QIAGEN’s Ingenuity Variant Analysis is a HIPAA-compliant, web-based analysis application that enables rapid identification of genetic variants for human diseases from high-throughput next-generation DNA sequencing (NGS) technologies. It combines analytical tools with the accurate, curated biological content in the Ingenuity Knowledge Base, the most extensive manually curated, integrated repository of genomic information, scientific literature, and public databases.

“The search and biological interpretation of causal variants in NGS data is the critical bottleneck in large scale NGS studies aimed at understanding rare diseases in children," said Hakon Hakonarson, M.D., Ph.D., Director of CAG and Associate Professor at The Children’s Hospital of Philadelphia.  ”We have integrated Ingenuity Variant Analysis into our bioinformatics pipeline to make the search for the rare events more streamlined and improve our ability to rapidly identify high-impact variants from thousands of rare disease patients.“

“CAG and Dr. Hakonarson are leaders in the effort to understand and treat rare diseases in children, and we are pleased to collaborate with them in this important area of research. It is incredibly important to patients, families and physicians to rapidly unlock the medical mysteries of rare diseases,” said Doug Bassett, Chief Scientific and Technical Officer of the QIAGEN Center of Excellence in Biological Analysis and Interpretation. “Ingenuity Variant Analysis greatly accelerates this research effort, speeding the way to rare disease interpretation and the development of future treatment and patient care regimens.”

According to the National Organization for Rare Diseases, approximately 6,800 diseases are defined as rare, affecting fewer than 200,000 Americans. Genetic mutations drive about 80% of these diseases, but for many of them the underlying genetic drivers are unknown.

Led by Dr. Hakonarson, CAG’s primary goal is to translate basic research findings into medical innovations. The Center aims to discover the genetic causes of childhood diseases, both common and rare, including some of the most debilitating diseases such as autism, epilepsy, schizophrenia, diabetes and pediatric cancer. Ultimately, the center’s objective is to discover genetic markers that can accurately diagnose patient subsets with genetic abnormalities that guide physicians to the most appropriate therapies for them. To learn more about CAG, please visit www.caglab.org.

To learn more about Ingenuity Variant Analysis, please see http://www.ingenuity.com/variants.

About QIAGEN Redwood City

QIAGEN Redwood City, formerly Ingenuity Systems, is based in Redwood City, California. As the company’s Center of Excellence in Biological Analysis and Interpretation, QIAGEN Redwood City is a leading provider of biomedical information and analysis solutions for the exploration, interpretation and analysis of complex biological systems in life science research and molecular diagnostics. Marketed under the Ingenuity brand, these innovative solutions offered by QIAGEN are used by tens of thousands of researchers and clinicians at hundreds of leading pharmaceutical, biotechnology, academic, diagnostic and clinical institutions worldwide. Further information can be found at http://www.qiagen.com/ingenuity.


QIAGEN N.V., a Netherlands holding company, is the leading global provider of Sample & Assay Technologies that are used to transform biological materials into valuable molecular information. Sample technologies are used to isolate and process DNA, RNA and proteins from biological samples such as blood or tissue. Assay technologies are then used to make these isolated biomolecules visible and ready for interpretation. QIAGEN markets more than 500 products around the world, selling both consumable kits and automation systems to customers through four customer classes: Molecular Diagnostics (human healthcare), Applied Testing (forensics, veterinary testing and food safety), Pharma (pharmaceutical and biotechnology companies) and Academia (life sciences research). As of June 30, 2013, QIAGEN employed approximately 4,050 people in over 35 locations worldwide. Further information can be found at http://www.qiagen.com.

Certain of the statements contained in this news release may be considered forward-looking statements within the meaning of Section 27A of the U.S. Securities Act of 1933, as amended, and Section 21E of the U.S. Securities Exchange Act of 1934, as amended. To the extent that any of the statements contained herein relating to QIAGEN's products, markets, strategy or operating results, including without limitation its expected operating results, are forward-looking, such statements are based on current expectations and assumptions that involve a number of uncertainties and risks. Such uncertainties and risks include, but are not limited to, risks associated with management of growth and international operations (including the effects of currency fluctuations, regulatory processes and dependence on logistics), variability of operating results and allocations between customer classes, the commercial development of markets for our products in applied testing, personalized healthcare, clinical research, proteomics, women's health/HPV testing and nucleic acid-based molecular diagnostics; changing relationships with customers, suppliers and strategic partners; competition; rapid or unexpected changes in technologies; fluctuations in demand for QIAGEN's products (including fluctuations due to general economic conditions, the level and timing of customers' funding, budgets and other factors); our ability to obtain regulatory approval of our products; difficulties in successfully adapting QIAGEN's products to integrated solutions and producing such products; the ability of QIAGEN to identify and develop new products and to differentiate and protect our products from competitors' products; market acceptance of QIAGEN's new products, the consummation of acquisitions, and the integration of acquired technologies and businesses. For further information, please refer to the discussions in reports that QIAGEN has filed with, or furnished to, the U.S. Securities and Exchange Commission (SEC).

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