Laird Jackson, MD, and Ian Krantz, MD

Drexel Universitiy School of Medicine and Children's Hospital of Philadelphia

Nominated by: Cornelia de Lange Syndrome Foundation

Dr. Laird Jackson had been searching for the illusive Cornelia de Lange syndrome (CdLS) gene for more than two decades when he heard about Dr. Ian Krantz at the Children's Hospital of Philadelphia.

Dr. Jackson, a professor at Philadelphia's Drexel University School of Medicine and the CdLS Foundation's medical director at the time, had been collecting CdLS data and blood samples from around the world for years, but didn't have the resources to do much with the information. Across town, Dr. Krantz had a state-of-the-art lab, staff and was looking for a new research project. It was a partnership that would change the landscape of what we now know about CdLS, a congenital genetic syndrome that occurs in approximately 1 in 10,000 live births and is often misdiagnosed.

With hundreds of Dr. Jackson's samples, the Krantz lab undertook a genome-wide linkage analysis, looking for regions of the genome that were consistently inherited in children with CdLS but not in their unaffected siblings. They also studied blood samples from 12 families that had multiple family members with CdLS. In 2004, seven years after the two doctors began collaborating, the CdLS gene was discovered: NIPBL on chromosome 5.

The breakthrough paved the way for genetic testing to confirm a diagnosis. It raised awareness of the syndrome among physicians and brought a biological understanding that could lead to new therapies and interventions for individuals with CdLS.

It also increased interest in CdLS research around the world. Since 2004, two additional gene mutations have been discovered. The third of which, SMC3 on chromosome 10, was found by the Krantz lab in 2007. Research into additional genes continues.