Children's Hospital Investigator Inducted Into the Rare Disease Hall of Fame
Ian Krantz, M.D., Division of Human Genetics, was inducted into the National Organization for Rare Disorders (NORD) Rare Disease Hall of Fame for his groundbreaking Cornelia de Lange syndrome (CdLS) research.
Along with his long-time colleague, Laird Jackson, M.D., of Drexel University, Dr. Krantz was nominated for the honor by the Cornelia de Lange Syndrome Foundation. Drs. Krantz and Laird are credited with discovering that mutations in the NIPBL gene on chromosome 5 are the underlying causes of CdLS.
This finding paved the way for using genetic testing to confirm a CdLS diagnosis. It also raised awareness of the syndrome among physicians and increased interest in CdLS research, which led to the discovery of two additional gene mutations associated with CdLS, one of which was discovered in Dr. Krantz’s lab.
As a pediatric geneticist at Children’s Hospital, Dr. Krantz continues to conduct research on the molecular basis for human birth defects, particularly by identifying disease genes that result in multi-system developmental disorders.
Founded in 1983, NORD is a non-profit voluntary health agency dedicated to helping people with rare diseases and assisting the organizations that serve them.