University of North Carolina at Chapel Hill

Michael Knowles, M.D
Principal Investigator
CF/Pulmonary Research & Treatment Center
School of Medicine
CB#7248, 7214 Marsico Hall
University of North Carolina at Chapel Hill
Chapel Hill, NC 27599-7248

Margaret Leigh, M.D.
Department of Pediatrics
CB#7220, 231 MacNider Building
University of North Carolina at Chapel Hill
Chapel Hill, NC 27599-7220

Beth Godwin
Administrative Assistant
Cystic Fibrosis/Pulmonary Research & Treatment Center
7215 Marsico Hall
CB#7248 Chapel Hill, NC 27599-7248
FAX: 919-966-7524


Contact Information:

Kelli M. Sullivan, MPH
Clinical Research Coordinator
Cystic Fibrosis / Pulmonary Research & Treatment Center
University of North Carolina at Chapel Hill CB #7248
7222 Marsico Hall
Chapel Hill, NC 27599-7248
Phone: 919-966-0713
Fax: 919-966-7524


About Us:

University of North Carolina School of Medicine CampusThe UNC School of Medicine is strongly based on scholarship and fundamentally committed to the scientific medicine of the present and future. The school expresses these commitments by expanding innovative educational programs in Chapel Hill and throughout the state. The School of Medicine is equally proud of the achievements of its nationally and internationally prominent faculty in its generation of new knowledge and its excellent teaching of students, house staff, and practicing professionals.

As the academic medical center has grown in size and complexity a concern has also grown that the medicine practiced here be leavened with sensitivity, compassion, and genuine interest in people and their families. The UNC Hospitals, as the School of Medicine's primary teaching hospital, has the reputation of being a warm, personable place while maintaining its obligation and capacity to keep clinical care at the cutting edge of medical science. With this balance of efforts the School of Medicine continues its tradition of service for the benefit of the health and medical care of the citizens of North Carolina and the nation.

The UNC Cystic Fibrosis Pulmonary Research and Treatment Center is a large, multidisciplinary group focused on the pathogenesis and therapy of cystic fibrosis and other lung diseases. We have one of the largest clinical programs in the country with over 500 patients in our pediatric and adult programs.

The University of North Carolina at Chapel Hill has a large research group with an interest in Primary Ciliary Dyskinesia (PCD). We perform research on PCD and provide treatment for patients with the disease. We are trying to identify criteria to help stratify patients by the type of disease they have and ultimately are trying to identify the genetics of PCD. To help us do this we are interested in contact from families with members affected by PCD in order to build a national database of patients and families.

The UNC Division of Pediatric Pulmonology provides comprehensive clinical services for infants and children with respiratory disorders. Conditions diagnosed and treated in our clinics include asthma, cystic fibrosis, chronic lung disease of infancy, persistent cough, chronic wheezing, recurrent pneumonia, congenital lung malformations, apnea, and sleep disorders. The Division is home to leading expertise in flexible bronchoscopy and infant lung function testing, and to nationally prominent programs in cystic fibrosis and primary ciliary dyskinesia. We maintain several strong research programs, independently and in collaboration with other physicians and scientists at UNC. The Division also has a major interest in the education of physicians and physician-scientists. We have a large and active Fellowship training program, in addition to providing clinical teaching for UNC residents and medical students.


Useful Links:

UNC Pulmonary and Critical Care Medicine

UNC Division of Pediatric Pulmonary Medicine



Noone, P.N., Bali , D., Carson , J., Sannuti, A., Gipson, C.L., Ostrowski, L., Bromberg, P.A., Boucher, R.C. Knowles, M.R. Discordant organ laterality in monozygotic twins with primary ciliary dyskinesia. Am. J. Medical Genetics, 82:155-160, 1999.

Kerem, E., T. Bistritzer, A. Hanukoglu, T. Hofmann, Z. Zhou, W. Bennett, V. Homolya, E. MacLaughlin, P. Parker, B. Keenan, M. Nash, L. Quittell, R. Boucher, M.R. Knowles. Pulmonary epithelial sodium-channel dysfunction and excess airway liquid in pseudohypoaldosteronism. N. Engl. J. Med., 341:156-162, 1999.

Zariwala, M. Noone, P.G., Sannuti, A., Minnix, S., Silverman, L. Zhou, Z., Leigh, M.W., Hazucha, M., Carson, J.L., and Knowles, M.R., Germline mutaions in an intermediate chain dynein cause primary ciliay dyskinesia. Am. J. Respri. Cell and Mol Biology, 25:577-83, 2001.

Thomas, C.P., Zhou, J., Kang, Z.L., Verity, E.M., MacLaughlin, E., and Knowles, M.R., Systemic pseudohypoaldosteronism from deletion of the promoter region of the human ß epithelial Na+ channel subunit. Am.J.Respir. Cell and Mol Biology 27:314-319, 2002.

Olbrich H, Haffner K, Kispert A., Volkel A., Volz A., Sasmaz G., Lehrach H., Konietzko N., Zariwala M., Noone P.G., Knowles M.R., Mitchison H., Chung E., Hildrebrandt R., Sudbrak R., Omran H. Mutations of DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nature Genetics 30 (2): 143-4, 2002.

Leigh, MW: Primary ciliary dyskinesia. Sem. Resp. Crti. Care Med. 24:653-662, 2003.

Kispert A., Petry M., Olbrich H., Volz A., Ketelsen U-P, Harvath J., Melkaoui R., Omran H., Zariwala M., Noone P.G., Knowles M.R. Genotpye-Phenotype correlations in PCD patients carrying DNAH5 mutations. Letter to the Editor. Thorax 58:552-54, 2003.

Noone PG, Leigh MW, Sannuti A, Minnix, SL, Carson JL, Hazucha M, Zariwala M, Knowles MR. Primary ciliary dyskinesia: diagnostic and phenotypic features. Am. J. Respir. Crit. Care Med., 169:459-467, 2004.

Zariwala M, O'Neal, WK, Noone PG, Leigh MW, Knowles MR, Ostrowski, LE, Investigation of the possible role of a novel gene, DPCD, in Primary Ciliary Dyskinesia. Am. J. Respir. Cell and Mol Biology. Apr: 30(4):428-34, 2004.

Highsmith, W.E., Jr., Friedman, K.J., Burch, L.H., Spock, A., Silverman, L.M., Boucher, R.C., and Michael R. Knowles. A CFTR Mutation (D1152H) in a family with mild lung disease and normal sweat chlorides. Letter to the Editor, Clinical Genetics, 68:88-90, 2005.

Fliegauf, M. Olbrich, H., Horvath, J. Wildhaber, J.H., Zariwala, M.A., Kennedy, M., Knowles, M.R., and H. Omran Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia. Am. J. Respir. Crit. Care Med., 171:1343-1349, 2005.

Chmura, K., Chan, E.D., Noone, P.G., Zariwala M.A., Winn, R.A., Knowles, M.R., Iseman, M.D., and Gardner, E.M. A middle-aged woman with recurrent respiratory infections. Respiration 72(4):427-30, 2005.

Horváth J., Olbrich H., Fliegauf, M., Kispert, A., King, S.M., Mitchison, H., Zariwala, M.A., Knowles, M.R., Sudbrak, R. Reinhardt, R., and H. Omran. Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients. Am J Respir Cell Mol Biol, 33(1):41-7, 2005.

Drumm, ML, Konstan, MW, Schluchter, MD, Handler, A, Pace, R, Zou, F, Zariwala, M, Fargo, D, Xu, A, Dunn, JM, Goddard, K, Yankaskas, JR, Wright, FA, Knowles, MR for the Gene Modifier Study Group. Gene Modifiers of Lung Disease in Cystic Fibrosis. N. Engl. J. Med. 353(14): 1443-1453, 2005.

Sheridan MB, Fong P, Groman JD, Conrad C, Flume P, Diaz R, Harris C, Knowles M, Cutting GR. Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome. Hum Mol Genet. 14 (22):3493-8, 2005.

Donaldson SH, Bennett WD, Zeman KL, Knowles MR, Tarran R, Boucher RC. Mucus clearance and lung function in cystic fibrosis with hypertonic saline. N. Engl. J. Med. 19;354(3):241-50, 2006.

Zariwala, M., Leigh, M.W., Ceppa, F., Kennedy, M.P., Noone, P.G., Carson, J.L., Hazucha, M.J., Lori, A., Horvath, J., Olbrich, H., Loges, N.T., Bridoux, A., Pennarun, G., Duriez, B., Escudier, E., Mitchison, H.M., Chodhari, R., Chung, E.M.K., Morgan, L.C., de Iongh, R.U., Rutland, J., Pradal, U., Omran, H., Amselem, S., Knowles, M.R. Mutations of DNAI1 in primary ciliary dyskinesia: Evidence of founder effect in a common mutation. Am J Respir Crit Care Med. 174:858-66, 2006.

Hornef, N., Olbrich, H., Horvath, J., Zariwala, M.A., Fliegauf, M., Loges, N.T., Wildhaber, J., Noone, P.G., Kennedy, M., Antonarakis, S.E., Blouin, J.L., Bartoloni, L., Nublein, T., Ahrens, P., Griese, M., Kuhl, H., Sudbrak, R., Knowles, M.R., Reinhardt R., Omran, H. DNAH5 Mutations are a Common Cause of Primary Ciliary Dyskinesia with Outer Dynein Arm Defects. Am J Respir Crit Care Med. 174:120-6, 2006.

Kennedy, M.P., Coakley, R.D., Donaldson, S.H., Aris, R.M.,Gilligan, P.H., Hohneker, K., Knowles M.R., Wedd, J., Yankaskas, J.R. Burkholderia gladioli: Five Year Experience in a Cystic Fibrosis Referral and Lung Transplantation Center. J Cyst Fibros. Nov 28, 2006.

Stonebraker, Jaclyn R., PhD and Knowles, Michael R., MD, Genetic Modifiers of Lung Disease in Cystic Fibrosis. US Respiratory Disease 2006 .

Knowles, M.R. Gene modifiers of lung disease. Curr Opin Pulm Med, 12(6):416-21, 2006.

Kennedy, M.R., Noone, P.G., Carson, J., Molina, P.L., Ghio, A., Zariwala, M., Minnix, S.L., Knowles, M.R., Calcium stone lithoptysis in primary ciliary dyskinesia. Respir Med. 101:1; 76-83, 2007.

Zariwala M, Knowles, M, Leigh M, (January 2007) Primary Ciliary Dyskinesia in: GeneReviews at GeneTests: Medical Genetics Informatin Resource [database online]. Copyright, University of Washington, Seattle, 1997-2007. Available at

Kennedy, M.P., Noone, P.G., Knowles, M.R., Airway calcium deposition and broncholithiasis in disorders of mucociliary clearance. Archivos de Bronconeumologia, 43(8), 2007.

Kennedy MP, Noone PG, Leigh MW, Zariwala MA, Minnix SL, Knowles MR, Molina
PL. High-resolution CT of patients with primary ciliary dyskinesia. AJR Am J Roentgenol. 188(5):1232-8, 2007.

Kennedy, M.P., Omran, H., Leigh, M.W., Dell, S., Morgan, L., Molina, P.L., Robinson, B.V., Minnix, S.L., Olbrich, H., Severin, T., Ahrens, P., Lange, L., Morillas, H., Noone, P.G., Zariwala, M.A., and M.R. Knowles. Congenital Heart Disease and other Heterotaxic Defects in a Large Cohort of Patients with Primary Ciliary Dyskinesia. Circulation, 115:2814-2821, 2007.

Zhang, A, Zariwala, MA, Mahaevan, MM, Caballero-Campo, P, Wuening, S, Escudier, E, Duriez, B, Bridoux, M, Leigh, M, Gerton, GL, Kennedy, M, Amselem, S, Knowles, MR, and JF Strauss. A heterozygous mutation disrupting the SPAG16 gene results in biochemical instability of central apparatus componenets of the sperm axoneme. Biol Reproduction, 2007, Aug. 15 [Epub ahead of print].

Morillas, H.N., Zariwala, M.B., and M.R. Knowles, Genetic Causes of Bronchiectasis: Primary Ciliary Dyskinesia. Respiration, 74:252-263, 2007.

Book Chapters

Leigh, MW: Primary ciliary dyskinesia. In Chernick V, Boat TF, Wilmott RW, Bush A eds, Kendig's Disorders of the Respiratory Tract in Children, 7th edition, Elsevier, in press 2005.

Noone, PG, Zariwala, MB, and Knowles, MR. Primary Ciliary Dyskinesia. In: Principles of Molecular Medicine. Editors: M.S. Runge and C. Patterson, 2nd Edition, Submitted, 2004.

Noone, P.G., Zariwala, M.B. and M.R. Knowles. Primary Ciliary Dyskinesia. In: Principles of Molecular Medicine. Editors: M.S. Runge and C. Patterson, 2nd Edition, Humana Press, Totowa, NJ, pp 239-250, 2006.

Zariwala, M.A., Knowles, M.R. and H. Omran. Genetic defects in ciliary structure and function. Annu. Rev. Physiol., 69:22:1-28, 2007.

Kennedy, M.K., Knowles, M.R.. Cystic Fibrosis. In: Chronic Obstructive Pulmonary Disease. Editors: R. Stockley, S. Rennard, K. Raube, and B. Celli. Chpt. 11. Blackwell Publishing, Oxford, UK, 2007.