Researchers at the Hadassah University Medical Center have discovered the gene that causes primary ciliary dyskinesia (PCD), a rare condition that compromises the functioning of the cilia, the minute protective hairs in the respiratory system, thereby resulting in repeated lung infections, sinusitis, frequent ear infections, and fertility problems. In about half of the cases, the mutation also causes organs to develop in "mirror image" of one another, so that, for example, the heart develops on the right side of the chest instead of on the left, while the liver grows on the left and the stomach and spleen on the right.
Prof. Eitan Kerem, head of Pediatrics at Hadassah, and Prof. Orly Elpeleg, head of the Department of Genetic and Metabolic Diseases, along with Dr. David Shoseyov and Dr. Malena Cohen discovered the gene by studying five children from two different families who suffer from PCD. Three of the children affected suffer from the transposition of organs. According to medical estimates, the condition occurs in one out of 15,000 births, but the Hadassah researchers believe that PCD is actually more prevalent, though not always diagnosed.