Researchers say that birth defects has its origin in early embryonic development after research revealed the role of cilia in causing heart defects. In a study published on Nature journal, the team from Yale School of Medicine reported that a genetic mutation that inhibits signalling mechanism in congenital heart disorders leading to birth defects with misalignment of major organs. This insight has increased the potential to finding the cause of birth defects, the number one cause of infant mortality in developing countries. “It is crucial to understand the causes of these birth defects if we are to create tests that can diagnose them and provide important genetic counseling and prognosis,” said Mustafa Khokha, associate professor of pediatrics and of genetics. The study conducted using frogs highlighted that proper functioning of cilia, hair-like structures on cell walls, was responsible for spacial orientation of organs during early stages of embryonic development. Previously, Martina Brueckner of Yale had revealed that cilia could be the cause with insight into motile cilia and immotile cilia, where they maintain leftward fluid flow crucial in proper left-right orientation of organs in the developing embryo. However, the mechanism that determines whether cilia will be motile or immotile was unknown. Then, Dr.Brueckner and team found that galnt11 gene determines the type of cilia and changes in number between these two types of cilia causes birth defects. “But now with the new human genomics tools, we are finding the genetic causes that eluded us for so long and in the process are learning a lot about how we are put together,” Khokha said.