Genetic error linked to rare disease that causes chronic respiratory infections

Scanning the DNA of two people with a rare disease has led scientists to identify the precise genetic error responsible for their disorder, which causes persistent lung, sinus and ear infections, male infertility, and sometimes a reversed orientation of major organs in the body. The defect affects hair-like structures called cilia that extend from many cells in the body.

Focusing on one cell

Most people don’t think highly of pond scum, but for Susan Dutcher, PhD, professor of genetics and of cell biology and physiology at the School of Medicine, the single-celled green algae Chlamydomonas are incredible creatures worthy of her life’s work.