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Birth defect is a catchall term used to describe physical malformations, functional abnormalities and metabolic malfunctions present at the time of birth. Some birth defects are the result of environmental influences, some genetic and some the combination of the two. What can we do to reduce the odds of genetic birth defects? This is a question that Salk scientists address everyday. They are looking at:
- The process by which control systems regulate chromosome duplication during meiosis (the process by which sperm and eggs are produced). This information is critical to understanding how genetic instability can lead to birth defects and miscarriages.
- The Notch Pathway, a signaling system involved in the embryonic segmentation process. Segmentation is one of the first steps in the development of the spinal cord, limbs and organs. When the system is not working correctly, embryos can develop a variety of defects that can lead to fused vertebrae, congenital scoliosis and other spinal deformities. It can also lead to defects in other organ systems.
- The molecular events that guide the formation of the embryonic nervous system with an eye towards identifying miscues. This work, which is fundamental to understanding how the nervous system is wired, may some day lead to methods for correcting abnormal neurodegenerative conditions.
- The fundamental principles that control the specification and connectivity of spinal neurons involved in locomotion. This research could lead to treatments for movement-related birth defects as well as motor neuron diseases such as Lou Gehrig's disease.
- How genes control the development of the nervous system. This work could lead to the discovery of genes critical to the development of the human brain. It could also lead to techniques for preventing, diagnosing, or treating birth defects that involve the brain.
- Development of gene therapy methods that could cure genetic based birth defects. New methodologies use modified Human Immunodeficiency Virus (HIV) to ferry therapeutic genes into cells with defective genes. The modified virus is no longer harmful to humans. Additional work is being done to improve the targeting capability of viral vectors so they infect only specific types of cells. These methods hold tremendous promise for treating hemophilia, cystic fibrosis, color blindness and other genetic eye diseases.
Learn more about related Salk faculty research
Beverly Emerson
J.C. Izpisúa Belmonte
Catherine Rivier
Ronald Evans
Chris Kintner
Jean Rivier
John Thomas
Greg Lemke
Martyn Goulding
Dennis O'Leary