My medical and scientific career began with, and continues to involve, investigations concerning the biology of the human lung, with a focus over the past decade on health and disease of the airway epithelium and lower respiratory tract. Over 40 years ago, I collaborated with Herb Reynolds and utilized bronchoalveolar lavage to study inflammation on the epithelial surface of the lower respiratory tract.
This research opened the door to a major series of studies that helped to define the pathogenesis and therapy of fibrotic lung diseases. Following that breakthrough, our laboratory helped to define the pathogenesis of Alpha-1 Antitrypsin (AAT) deficiency and - most crucially - developed AAT augmentation therapy, the FDA-approved therapy that has been used since 1988 to treat thousands of AAT deficiency patients worldwide.
To this day, our department is a leader in the field of genetic medicine.
After developing AAT augmentation therapy, we shifted our focus to include the fledging (in 1987) field of gene therapy, with the laboratory’s initial studies directed toward AAT deficiency. This soon blossomed into a major program that grew to include genetic research directed toward a variety of disorders. In April 1993, we became the first laboratory to use a recombinant virus to transfer genes to humans.
To this day, our department is a leader in the field of genetic medicine. Using OMICS technology and fiberoptic bronchoscopy to obtain samples, we have defined the genetic makeup of human airway epithelia, alveolar macrophages and epithelial lining fluid in nonsmokers, smokers, and smokers with Chronic Obstructive Pulmonary Disease (COPD). We have also established a significant clinical and regulatory infrastructure to recruit subjects for clinical research studies, with assessments at the clinical and biologic levels.
The highly productive, specialized researchers within the Weill Cornell Department of Genetic Medicine are leaders in their respective fields. We are committed to translating genetic research into medical breakthroughs, and we invite you to explore all aspects of our work.