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Developmental genetics and genomics research
Imagine this: A dying child, a mysterious disease, and the researchers who sifted through the child's genetic code to make a groundbreaking diagnosis — and deliver successful treatment. The true-life landmark case at Children's Wisconsin illustrates the power of the genomics field.
What is genomics?
The Human Genome Project has provided unprecedented knowledge about the entire human genome. This has created a new field of research called genomics: the study of genes and their function. Advances in genomics are revolutionizing our understanding of the molecular mechanisms of health and disease, including the interplay of genetic and environmental factors.
Genomics is revealing thousands of new biological targets for the development of new drugs for children, and the techniques of genomic research are giving scientists innovative ways to design DNA diagnostic tests, new drugs and vaccines. Already, we've seen large numbers of breakthrough health care products, such as small molecule drugs, protein drugs and gene therapy.
Ultimately, genomic research will usher in an era of individualized pediatrics, where doctors use each child's unique genetic signature to identify diseases, disease susceptibility and disease prognosis. And that means better outcomes for our kids.
Leading the way
Children's Research Institute is a leader in pediatric genomics research. Our research highlights 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 early interventions prior to the development of disease and better ways to manage the disease when it appears.
- A collaboration with NIH's Pharmacogenetics Research Network that will help physicians prescribe the right medication at the right dose for every child based on his or her unique makeup of genes.
- Utilization of pre-implantation genetic diagnosis coupled with in vitro fertilization to prevent the genetic transmission of unique single-gene disorders.
- 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 other childhood disorders.
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