Pediatric Genomics Project to Hunt Genes Behind Common Childhood Diseases

The Children's Hospital of Philadelphia is launching an ambitious program to identify the genes responsible for common childhood diseases. Making use of advanced automated technology from the biotechnology company Illumina, Inc., the Hospital's new Center for Applied Genomics will house one of the world's largest programs for genotyping - the process of detecting gene variations, with the aim of linking them to particular illnesses.

The program will focus on some of the most prevalent diseases of childhood - asthma, obesity and diabetes, among others - as well as cancer, all of which are thought to involve the contributions of multiple, interacting genes. The Center's researchers will then work to translate the genetic knowledge into precisely targeted treatments for the diseases in question, customizing treatments to a child's genetic profile.

"We are following a trail blazed by the Human Genome and HapMap Projects, but tailoring our approach to children," said Philip R. Johnson, M.D., chief scientific officer at The Children's Hospital of Philadelphia. "As one of the world's largest and most comprehensive pediatric networks, we have a sizable base of patients and families from which to collect data. This focused effort in genomics reaffirms that we are absolutely committed to finding cures for childhood diseases."

The Human Genome Project compiled the sequence of DNA bases in all 23 chromosomes in the human genome, while the HapMap Project listed haplotypes - blocks of DNA sequences with variations thought to be linked to risks of specific diseases.

Leading the new Center for Applied Genomics is Hakon Hakonarson, M.D., Ph.D., who has returned to Children's Hospital from deCODE Genetics, Inc., a Reykjavik-basedompany that has conducted pioneering genomic research on the entire population of Iceland. At deCODE, Dr. Hakonarson was intimately involved in many of the company's important genome-wide mapping and association studies over the past several years, and served as director of Respiratory, Inflammatory and Pharmacogenomics Research, vice president of Clinical Sciences, and later as vice president of Business Development.

"Our goals for the Center are to generate new diagnostic tests for childhood diseases, to use this diagnostic knowledge to guide physicians to the most appropriate therapies. In addition, we plan to form strategic partnerships with biopharmaceutical companies to develop novel therapeutics," said Dr. Hakonarson.

Tailoring treatments to a patient's genetic profile represents an era of personalized medicine still in its early stages. Part of the research task ahead, said Dr. Hakonarson, is not only to map gene variants to disease risk, but also to investigate how genes interact with environmental factors.

"We will be tracing the major underlying genetic component of disease-related genes while discovering the biological pathways involved in disease development," Dr. Hakonarson added. "For instance, a specific cholesterol receptor may be dysregulated because of genetics, or the pathway may also be dysregulated because of an unhealthy diet. If we can identify key bottlenecks for dysregulation, we may be able to treat not only the five percent of people with a particular gene variant for a disease, but also the larger percentage who suffer the disease without having that variant."