Genomics
The Human Genome Project has provided unprecedented knowledge about the entire human genome, producing critical information about human genes and their protein products that will ultimately permit detailed analysis of the basic molecular mechanisms which determine health and disease. This has given rise to a new field of research called genomics: the study of genes and their function. Advances in genomics are bringing about a revolution in our understanding of the molecular mechanisms of health and disease, including the interplay of genetic and environmental factors.
Genomics is playing a central role in pediatrics research by providing the background to build an integrated, systematic and comprehensive analysis of processes and pathways involved in normal and abnormal cells and organs as well as intact human growth and development. This extends to a description of how DNA variation contributes to disease susceptibility.
Genomics is revealing thousands of new biological targets for the development of new drugs for children while the techniques of genomic research are giving scientists innovative ways to design DNA diagnostic tests, new drugs and vaccines. Large numbers of breakthrough health care products have already happened, including small molecule drugs, protein drugs and gene therapy.
Examples of genomic research underway at Children's Research Institute include:
- Researchers in the Max McGee National Research Center for Juvenile Diabetes are working to identify specific genes that predict the development of type 1 and type 2 diabetes mellitus in at-risk individuals. This will create opportunities for specific early interventions prior to the development of clinical disease and better ways to manage disease when it appears.
- A pharmacogenomics initiative, which will help physicians at Children's Hospital of Wisconsin prescribe the right medication at the right dose for every child based on their unique make up of genes that affect drug absorption, metabolism and excretion.
- Utilization of pre-implantation genetic diagnosis coupled with in vitro fertilization to prevent the genetic transmission of unique single gene disorders.
- Development of a unique federally funded center of excellence to identify platelet disorders and prevent coagulation problems in children.
- Manipulation of gene delivery systems to develop gene therapy protocols to treat children with bleeding disorders.
- Genome-wide association studies to identify complex causative and modifying genes in childhood inflammatory bowel disease, hemangiomas, congenital heart disease, eye malformations and many other childhood disorders.
Ultimately, genomic research will usher in an era of individualized pediatrics, where pediatricians use each child's unique genetic signature to identify diseases, disease susceptibility and disease prognosis. Such data will provide the opportunity to provide optimal individualized therapy geared to that child's disease and genetic make-up.
Genomic programs:
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