For years Yale researchers David Breslow and Mustafa Khokha have worked together with a similar challenge in their sights - trying to capture the interplay between certain genes and the pediatric developmental disorders they cause.
In their latest collaboration, they hit pay dirt.
Using a new CRISPR screening technology developed by the Breslow lab, the researchers gained an unprecedented view into cellular sub-structures known as cilia and how ciliary defects are linked to different diseases. Along the way, they also discovered a microprotein that is crucial in normal embryonic development.
The new screening method - which is described in the journal Developmental Cell - could speed up discovery of genes linked to human developmental disorders and possibly other disease processes.
"Our method makes today's newer and more powerful genetic screening technologies compatible with microscopy in a way that lets you assess cellular activities in finer detail, and it's much easier to use," said Breslow, an associate professor of molecular, cellular, and developmental biology in Yale's Faculty of Arts and Sciences. "You don't need to be an expert in microscope optics or software programming."
When their latest collaboration began, Khokha was a professor of pediatrics and genetics at Yale School of Medicine. He has since become a professor of pediatrics at Cedars-Sinai Medical Center.
Breslow and Khokha originally met years ago when they were both part of the Yale Cilia Group, a consortium of research labs with shared interest in cilia, the tiny, hair-like structures found on many cells that act as a sort of antennae, allowing cells to receive signals from their environment and other cells.
