Partnership Brings Power of Systems Biology to Help Integrate and Analyze Data from Large-Scale Whole Genome Sequencing Projects

FALLS CHURCH, VA and Seattle, WA, Sept. 12, 2013 – Inova Translational Medicine Institute (ITMI) has engaged the expertise of the prestigious Institute for Systems Biology (ISB) to develop bioinformatics technologies to support Inova’s large-scale whole genome sequencing projects that will bring researchers and doctors closer to the application of genomics to individual healthcare. As Inova collects vast amounts of data from the thousands of families participating in these first-of-their-kind studies in pre-term birth, diabetes, osteoarthritis, immunology, and a longitudinal study targeting a variety of childhood diseases, researchers will need more robust software tools that can acquire, integrate and analyze the complexity of integrated genomic and clinical information.

“We are thrilled to embark on the partnership with ITMI to better understand pre-term birth and other diseases,” said Dr. Lee Hood, president of ISB. “We are using the systems approach to analyze the enormous amount of data being collected in these ambitious projects so that we can develop early diagnostic blood markers and even new therapeutic targets.”

Many of the diseases being researched by ITMI have early childhood onset and lifelong impact on health. Recently completing an 800 family study on pre-term birth, ITMI has launched a 5000 family longitudinal study that integrates familial whole genome sequencing and in-depth clinical data to evaluate genomic diseases as they manifest themselves in the first few years of life. Autism, developmental delay, childhood obesity and type I diabetes are just a few of the diseases that ITMI is investigating at this large-scale genomic level.

”What makes our studies so unique is the scale and scope of the research. ITMI has generated whole genome sequence on more than 3000 participants, with expression profiles, miRNA and DNA methylation data following close behind” said Dr. John Niederhuber, CEO of ITMI. “We anticipate that this genomic data along with in-depth clinical information on thousands of participants will provide the information necessary to enable the practice of predictive and preventive medicine.”

Dr. Ilya Shmulevich, whose group at ISB focuses on computational biology, will work closely with ITMI researchers to build ITMI’s bioinformatics and analytical capabilities. “We will build the infrastructure to automate the data acquisition and analysis processes so that we are prepared to scale to much larger datasets,” Shmulevich said. “This will accelerate the scientific discovery process and move us closer to the translational promise of clinical genomics.”

Dr. Joe Vockley, ITMI’s Chief Scientific Officer believes that, “In addition to advances in the understanding of a variety of diseases, our research may also shed new light on ancestral genomics and its importance to clinical-grade whole genome sequencing and newborn screening methods.” Currently, DNA sequencing and the interpretation of sequencing results rely on an NIH-generated reference genome that has little information to make it useful for clinical application in ethnic populations.

Media Contacts:

Tony Raker

PR & Crisis Communications Officer

Inova Health System

703-645-2736

Tony.Raker@inova.org

Hsiao-Ching Chou

Director of Communications

Institute for Systems Biology

206-732-2157

hchou@systemsbiology.org

About Institute for Systems Biology:

The Institute for Systems Biology (ISB) is a world-renowned, non-profit research institute headquartered in Seattle that is dedicated to the study and application of systems biology. Founded in 2000, ISB seeks to unravel the mysteries of biology while identifying strategies for predicting and preventing diseases, solving energy and environmental issues, and improving K-12 science education. ISB’s systems approach integrates biology, computation and technological development, enabling scientists to analyze all elements in a biological system rather than one gene or protein at a time. ISB has 10 faculty members and about 230 staff. Learn more at www.systemsbiology.org.

About Inova Translational Medicine Institute:

The Inova Translational Medicine Institute (ITMI) is a not-for-profit research institute delving into the genomics component of personalized medicine. ITMI is utilizing genomic and clinical information from patients to develop innovative methods for personalized patient care. Studies at the Institute have generated a large genomic and clinical data set that can be used as data in a variety of fields, from computational biology to psychology as well as more obvious biomedical research applications. ITMI’s goal is to utilize information from its studies to better understand and predict the onset of disease, leading to the implementation of preventive medicine based on the unique genomics of the individual patient.