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Cincinnati Children's Researchers Establish Powerful Web-based Genomics Computational Resource to Facilitate Diagnostic and Therapeutic Research

Design and application of powerful PolyDoms database published in the January issue of Nucleic Acids Research

Friday, February 02, 2007

CINCINNATI -- Cincinnati Children's Hospital Medical Center researchers, working in collaboration with researchers from the University of Cincinnati (UC) Academic Health Center at the Computational Medicine Center, have established a powerful new gene information resource designed to aid biomedical researchers in more effectively identifying small alterations in the human genome that are associated with individuals' susceptibility to disease.

Developed with funding from the National Institute of Environmental Health Sciences (NIEHS) and the National Cancer Institute (NCI), PolyDoms integrates the results of multiple genetic computational analyses and protein functional modeling. It provides biomedical scientists with important information on the theoretical probability of changes in genomic sequence (non-synonymous coding Single Nucleotide Polymorphism) being disease-relevant and an indication of whether they warrant further clinical investigation.

"NIEHS is pleased to have supported this important research effort through a translational research program, Comparative Mouse Genomics Centers Consortium," said David A. Schwartz, MD, director of the NIEHS. "Having this computational tool available to researchers will help prioritize which genetic variations are most likely to alter the structure and function of a protein, and provides us with critical information related to disease susceptibility, progression and targets for therapeutic interventions."

PolyDoms offers researchers a single, highly versatile, web-based tool that integrates diverse biomedical research information concerning genetic influences of disease with computational predictions of the impact of genomic changes on protein structures and functions. It has a user-friendly graphical and downloadable format that provides researchers with a list of genetic variations that they can analyze in their patient groups to gain more information regarding causes and susceptibility to disease.

"PolyDoms is part of a new wave of informatic resources that we and others in the computational biology community are developing to expedite and advance research in personalized, predictive and preventive medicine," says Bruce Aronow, PhD, co-director of the Center for Computational Medicine and professor of pediatrics at Cincinnati Children's and the University of Cincinnati. "At every stage our goals are to improve understanding to decrease risk of disease and to improve the care and health for each individual."

A paper outlining the design and application of PolyDoms was recently published in the January issue of Nucleic Acids Research. The paper describes how PolyDoms achieves the two primary goals of identifying the structural and functional impact of DNA sequence variation on proteins, as well as potentially harmful DNA sequence variations that could alter the normal function of a protein, resulting in a disruption of the normal physiological pathway and the onset of disease.

Computational Medicine Center

The Computational Medicine Center is a collaborative translational research initiative between Cincinnati Children's Hospital Medical Center and the University of Cincinnati Academic Health Center. The center has developed a variety of data and computational systems that seek to make disease more preventable, illness more predictive and treatment more personalized. With funding and support from Ohio's Third Frontier Project and the National Institutes of Health, the center continues to build its team of talented research physicians and experts in bioinformatics, genomics, genetics, epidemiology, computer science, math and statistics. The long-term objectives of the center include the development and commercialization of computational systems that facilitate the integration of genetics and genomics into clinical medicine, thus enabling improved understanding, prevention, diagnosis, treatment and amelioration of disease. Already, the center assists multiple investigators with experimental design and data analysis, including specialists in cancer, autoimmune disease, deafness, septic shock, asthma and diabetes.

Cincinnati Children's Hospital Medical Center

Cincinnati Children's Hospital Medical Center, one of the leading pediatric research institutions in the nation, is dedicated to changing the outcome for children throughout the world. Cincinnati Children's ranks second among all pediatric institutions in the United States in grants from the National Institutes of Health. It has an established tradition of research excellence, with discoveries including the Sabin oral polio vaccine, the surfactant preparation that saves the lives of thousands of premature infants each year, and a rotavirus vaccine that saves the lives of hundreds of thousands of infants around the world each year. Current strategic directions include the translation of basic laboratory research into the development of novel therapeutics for the treatment of disease, and furthering the development of personalized and predictive medicine.

University of Cincinnati Academic Health Center

The University of Cincinnati Academic Health Center is one of the largest medical centers in Ohio. It comprises the colleges of medicine, nursing, pharmacy and allied health sciences, Hoxworth Blood Center and UC's Genome Research Institute. Teaching and research affiliates include University Hospital, Cincinnati Children's Hospital Medical Center, Cincinnati VA Medical Center, the Cincinnati Shriners Hospital and UC Physicians.