In Utero Chemical Genetics to Prevent Birth Defects

Filed in archive Diagnostics, Methodologies and Instrumentation , Drugs, Vaccines and Therapeutics , Genomics, Proteomics and Bioinformatics on February 16, 2007

In a study published in the Feb. 11 advance online edition of Nature, scientists have demonstrated in mice that it may be possible to correct birth defects such as a cleft palate by injecting rapamycin into the mother to restore the functions of a protein called GSK-3 beta, which play a role in the development of cleft palates and sternum defects. This is the first demonstration that chemical genetics, a technique in which small molecules are used to modify gene expression or protein activity, can reach a fetus when administered to a pregnant animal.

"This is a really important baby step that opens the door to the development of fetal therapies," said pediatric craniofacial surgeon Michael Longaker, MD.

"There are tremendous implications to the idea of preventing conditions in unborn patients rather than trying to treat them after birth."

Before this technique can be applied to humans, however, there are a number of pre-requisites:

• an ability to predict which women are likely to have fetuses with birth defects before the defects occur;


• knowledge of an effective, small-molecule based therapy that can prevent the defect;


• and an accurate method of tracking fetal development to allow time-appropriate administration of the therapy

Source: Stanford School of Medicine