The Laboratory of Deborah Krakow, MD
The research career of Deborah Krakow, MD, Chair of Obstetrics and Gynecology, started with the desire to understand the genetic underpinnings of disease. Starting as a resident, she cared for individuals with osteogenesis imperfecta or brittle bone disease. While a rare disease, it is the most common form of heritable bone disease and affects 1 in 20,000 individuals, and there are lifelong, on-going clinical complications. Through ongoing collaborations with groups across the world, Dr. Krakow’s laboratory has identified numerous different genes that produce the disorder, expanding our understanding of the complex genetics of this disorder. The team generated mouse models with these genetic defects which allowed them to determine the mechanisms that cause the disease, as well as developing novel therapies to address their findings.
Meeting families with rare genetic disorders has allowed Dr. Krakow’s laboratory to find their respective disease genes allowing them reproductive options for future pregnancies. The laboratory team, along with collaborators, have uncovered gene defects in more than 100 rare diseases, and the team actively participates in the Undiagnosed Disease Network. This NIH supported network solves diseases that have puzzled physicians and eluded answers for patients. Through the generosity of patients, the Krakow laboratory has identified disorders that were previously unknown and uncovered novel cell pathways. For example, after findings of gene defects in two families, the laboratory defined new diseases and established two previously unappreciated cellular pathways, PTH-SIK3-mTOR and LAMA5-β Integrin-PYK2. Not only do these findings provide answers for understanding disease mechanisms, they provide valuable information on basic cell biology, ideally for the goal of developing personalized therapies for patients.
Approximately, 3-5% of children are born with congenital birth defects that affect both their lives as well as those of their families. Through Dr. Krakow’s participation in patient support groups, NIH supported efforts and the International Skeletal Dysplasia Registry at UCLA, her laboratory continues to uncover the molecular basis of disease and modeling their findings in cell based and model organism in hopes of developing potential treatments for these rare diseases.