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Current Research Studies

Inova Translational Medicine Institute (ITMI) researchers are engaged in pioneering studies that will drive the future of health. Ultimately, they will create genetic models based on large patient populations and provide targeted information for personalized healthcare. The team is making major strides, changing the course of human genomic study in the process.

Molecular study of pre-term birth (July 2011)

With half a million babies born prematurely each year at a cost exceeding $28 billion, pre-term birth is a growing public health issue in America. Yet little is known about the underlying causes of obstetrical diseases and pre-term birth, defined as delivery before 37 weeks gestation.

In ITMI’s first groundbreaking study, researchers are delving into the genetics of these complex disorders. The team has sequenced the DNA of 250 babies delivered full-term at Inova Fairfax Hospital and 250 babies delivered prematurely and admitted to the NICU, along with their parents, for a total of 1,500 genomes. Geneticists and bioinformaticists are now studying the information from all 1,500 samples and looking for clues that can predict or prevent pre-term birth.

Finding a genetic marker that identifies women at risk will lead to better and faster diagnosis and care, as well as potential preventive therapies. It will save resources, reduce costs, and help a large segment of children avoid lifelong health problems.

Preliminary research results are expected in early 2013.

Inova Childhood Longitudinal Cohort Study (April 2012)

In its second major research initiative, ITMI is building on the pre-term birth study to dive deeper into family genetics and broaden its goal to predict disease. This multigenerational study of 2,500 Fairfax County families – including grandparents, parents, children and other relatives – will generate a staggering 20,000 whole genomes over the next two years. Known as a “longitudinal cohort study,” it will track children for 1,000 days, from pregnancy through age two.

Researchers are not focused on a specific disease. Rather, they will study a broad cross-section of families with disease rates that reflect those in the general population. Participants will provide detailed family history, social history, medical history and genetic information. A variety of samples will be collected during the first, second and third trimesters of pregnancy, at birth, and at regular intervals over the next two years. The child’s parents, grandparents, siblings, aunts and uncles will also submit DNA samples.

As the study progresses, parents will provide updated information about their child, such as immunizations and developmental milestones, via a web portal. They’ll be quizzed on everything from nutrition, to the home environment, toxin exposure at work, psychological issues and more.

The genetic information generated could be used to identify risk factors that foretell not only premature birth, but also childhood diseases such as asthma, obesity, autism or developmental disorders. If researchers can find predictors, doctors can better manage the health of these children over their entire lifetime.

ITMI is currently enrolling 2,500 families for the study. As funds become available, it hopes to expand to 10,000 families and follow children from early childhood development into the teenage years.

On the horizon

ITMI is preparing to launch a genomic study of cancer in association with the International Cancer Genome Consortium, a group of international scientists who have united to perform cancer studies and combine all information into one database. The goal is to predict those with a higher risk for cancer and pinpoint the exact combination of therapies that an individual patient needs to successfully treat the disease. Similar studies will follow for heart disease, stroke, diabetes and orthopedics.