Rady Genomics Institute Begins Sequencing Genomes of Children Born with Birth Defects of Unknown Cause

Hospital Names Researcher Christina Chambers as First Faculty MemberDr. Tina Chambers web

San Diego – April 26, 2015 – In a first step towards realizing the future of personalized pediatric medicine, Rady Children’s Hospital–San Diego has begun whole genome sequencing of San Diego County children born with birth defects of unknown cause. The Hospital has appointed Christina Chambers, PhD, MPH, to lead this effort as the first faculty member of the Rady Pediatric Genomics and Systems Medicine Institute at Rady Children’s.

The collaborative research effort led by Dr. Chambers at the Institute will focus on examining the data obtained from whole genome sequencing of children born with structural birth defects, such as cleft palate or congenital heart defects. The Institute’s goal is to sequence the genome of every child born with a birth defect in San Diego County where the origin of the defect or disorder is unknown. An estimated two to three percent of children are born with a defect that is recognizable at birth. The ultimate goal of the sequencing is to translate research into therapies that can either treat the child’s condition or to identify risk factors which may prevent the defect. Selected sequencing of these children’s parents will also play a valuable research role.

“The Rady Pediatric Genomics and Systems Medicine Institute promises to be a groundbreaking incubator for discovery for birth defects research,” said Dr. Chambers. “My role within the Institute provides a unique opportunity to study both the environmental and genetic causes of birth defects, as frequently there is not one single cause.”
Dr. Chambers has dedicated her professional career to this important work. A UC San Diego Professor in the Department of Pediatrics, Dr. Chambers is a reproductive and perinatal epidemiologist with a research focus on environmental causes of adverse pregnancy outcomes, including birth defects.

“By adding the power of genomic sequencing, we have the opportunity to increase the speed of scientific discovery exponentially and expedite the translation to actionable prevention, treatments and cures,” said Dr. Chambers.

Dr. Chambers’ currently funded research activities include:
• A set of North American cohort studies evaluating the impact of rheumatologic diseases and the medications used to treat them on pregnancy outcomes
• A California Native American Research Center project testing the effectiveness of a Web-based vs. peer health educator model for preventing risky alcohol consumption in women of childbearing age
• A comparative effectiveness study of asthma medications in pregnancy
• A North American-wide fetal safety study of 2009 H1N1 influenza vaccine and antiviral drugs used in pregnancy
• International research activities of the Fetal Alcohol Spectrum Disorders involving studies in Ukraine, Russia, South Africa, and collaborations in Australia and Poland

“Our vision to pursue pediatric genomics research was born out of our deep belief in the mission of Rady Children’s Hospital,” said David Hale, Chair of the Board of Directors of the Rady Pediatric Genomics and Systems Medicine Institute at Rady Children’s. “There is a great deal of excitement worldwide about the possibilities of personalized medicine, and Rady Children’s leadership feels strongly that San Diego is the right place, with the right biotechnology and philanthropic partners, at the right time to pursue the dream – – that every child who comes to Rady Children’s for care will have the benefits of genomic sequencing – – and that one day we will extend our mission …to restore, sustain and enhance the health and developmental potential of children…worldwide as we share these discoveries.”