Research and Technology
Research Definitions
- DNA
- The chemical building blocks, called bases, that encode the instructions for life.
- Genome
- An organism's complete set of DNA. In humans, there are 3 billion bases in the genome. Each cell contains the complete genome.
- Genomics
- The study of the genome; the study of genes and their function.
- Bioinformatics
- The science of managing and analyzing biological data using advanced computing techniques. Especially important in analyzing genomic research data.
Core Facilities for Genomic Research
Over the next three years, Hector Wong, MD, will build a data bank of blood samples from 500 children under age 10 with septic shock and 200 healthy children. His study will analyze thousands of genes for each of these patients. "The numbers are huge," he says. "It's beyond the human brain's ability to analyze this data."
But Cincinnati Children's has the computational and intellectual prowess to do it. "Our leadership has had tremendous foresight. They have made substantial investments in new technologies and people to establish the infrastructure required for this clinical-genomic research," explains John Pestian, PhD, director of the Division of Pediatric Informatics.
Steven Potter, PhD, directs a microarray lab that can process eight gene chips at a time.
Dr. Pestian directs the Division of Pediatric Informatics which houses the Cincinnati Children's supercomputer center. The supercomputer can store, organize, index and analyze enormous amounts of data. It is the only computational facility in the United States dedicated to pediatric clinical-genomic research.
Bruce Aronow, PhD, directs an informatics team that helps researchers analyze data from genomic studies.
With state-of-the-art facilities and world-class scientists in bioinformatics, computational biology, computer science, developmental biology, health services research, mathematics and medicine, Cincinnati Children's is uniquely positioned to conduct clinical-genomic research.
"Phenomenal talent has been put into place here in bioinformatics," says Dr. Wong. "It's unmatched."
 "Discoveries are found at the edge, where different sciences come together. In our case it's biology, clinical care delivery and computer science. It's at this point of tremendous churning where we find the most challenging questions. It's exciting, but we need more and more people willing to step into these fast-moving currents and find new ways to treat and prevent disease."
John Pestian, PhD, Division of Pediatric Informatics |
Projects in Progress
Genomic research has the potential to rapidly expand our understanding of the complex biological systems that underlie health and disease. "Computer modeling allows us to focus on specific targets before going into the lab," says Dr. Aronow. "It's taking years off research."
With the facilities, data management resources and analytical capabilities in place to support their research, Dr. Wong and other physicians and scientists at Cincinnati Children's are launching genomic studies. Among the work in progress:
David Glass, MD, director of the Division of Rheumatology, has received an $8 million grant from the NIH to use gene chip technology for a large-scale study of gene expression in juvenile rheumatoid arthritis (JRA). The study offers the opportunity to establish the molecular basis for childhood arthritis and to refine diagnosis and treatment of the disease. "The study has the potential to profoundly affect the manner in which we view JRA," according to the NIH.
The Center for Hearing and Deafness Research is studying the genetic causes of hearing loss. John Greinwald, MD, and Daniel Choo, MD, lead a team that has designed a customized gene chip to determine the cause of nerve deafness in newborns, infants and children. This information may help clinicians predict whether the child's hearing loss will be stable or progressive, mild or severe, and help the physician and family determine the best treatment strategies.
Other researchers are studying asthma, autism, brain injury, cystic fibrosis, diabetes, epilepsy, heart disease and liver disease.
