Apr 11 2009
Short-rib Polydactyly Syndrome Gene Identified
After many years of research, scientists at University of California, Los Angeles (UCLA) have identified a mutated gene that is responsible for short-rib polydactyly syndrome, a rare and deadly disorder found in newborn babies. With the identification of the gene, scientists will be now able to diagnose the disease even at a very early stage.
Short rib-polydactyly syndrome is a rare disorder characterized by short ribs. It prevents the skeleton growth and thus the stunted ribs prevents the infant’s lungs from growing. Due to this, the infant is unable to breathe on it’s own and dies soon after birth. It is very rare and hardly accounts for 5% of all genetics defects that affects the skeleton.
The UCLA research team identified the culprit gene after looking at an interesting DNA sequence shared by all three infants from a single family. Dr. Deborah Krakow and Dr. Stan Nelson from UCLA used DNA-scanning techniques to identify the mutated gene that caused the death of those three infants. Later Krakow and Nelson also confirmed the presence of the gene in two other families who already lost their infants because of short-rib polydactyly syndrome.
So, for the first time scientists came to know about the genetics of the disease. Now, it will help in early diagnosis of the disease. Dr. Deborah Krakow thinks that families will be now able to test embryos at risk for the disease. The researchers are now trying to find out more suspected genes that contribute to development of short-rib polydactyly syndrome.
via: http://www.ucla.edu/
