Dr. Knowles has been the preeminent driving force to move research forward in primary ciliary dyskinesia (PCD) in the United States and internationally. As a highly respected cystic fibrosis researcher, Dr. Knowles was part of the team that identified the gene responsible for cystic fibrosis in 1989. With this background, he was uniquely qualified to take on the challenge of unraveling the very complex genetic picture in PCD, a similar multi-gene disorder. Chief among his accomplishments is his successful effort, with his colleagues, at creating a North American PCD research network which, in turn, facilitated international research initiatives that have greatly accelerated the pace of PCD gene identification, availability of clinical genetic testing, understanding of the natural history and pathophysiology of PCD and the opportunity for better, life-extending therapies for patients with PCD.  Unraveling the complex genetic picture in PCD has also provided insight into the genetic basis of other lung diseases and certain birth defects. 

In a distinguished career spanning decades, Dr. Knowles’ accomplishments have been recognized with numerous honors and awards, including the prestigious Di Sant’Agnese award for extraordinary accomplishments in research from the Cystic Fibrosis Foundation.  Dr. Knowles currently serves as a professor of pulmonary medicine at the University of North Carolina, Chapel Hill, Department of Pulmonary and Critical Care Medicine.  He is the Principal Investigator for the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC) at the Office of Rare Diseases Research, National Institutes of Health. 

The PCD patient community is indeed indebted to Dr. Knowles efforts to move PCD research forward and we are delighted to be able to express our appreciation in this small way, by nominating Michael R. Knowles, MD to the 2010 Rare Disease Day Researcher Hall of Fame.