Michael Knowles, MD

Michael E. Hatcher Distinguished Professor of Medicine, Division of Pulmonary Diseases and Critical Care Medicine

Specialty Areas: Genetic Modifiers of Disease phenotype (severity) in CF lung and liver disease, which also includes differential gene expression studies and a recently formed Intl. Consortium doing a whole genome scan.

Chronology: BA: University of North Carolina at Chapel Hill , Chapel Hill, NC (1967); MD: University of North Carolina at Chapel Hill, Chapel Hill, NC (1971); Residency: Duke University, Durham, NC (1975); Fellowship: University of North Carolina at Chapel Hill, Chapel Hill, NC (1980)

Dr. Michael R Knowles is a Professor of Pulmonary and Critical Care medicine at UNC. He has over 3 decades of clinical research experience that spans across the disciplines of biology, physiology, and design of clinical trials in both the academic and private sectors. He is currently the head of two large multicenter studies: 1) Genetic Modifiers of Disease phenotype (severity) in cystic fibrosis lung and liver disease, which also includes a recently formed International Consortium doing a whole genome scan; and 2) a Consortium with 8 sites in North America to study rare genetic disorders of mucociliary clearance.

Selected Bibliography:

  1. Corvol H, Blackman SM, BoĆ«lle PY, Gallins PJ, Pace RG, Stonebraker JR, Accurso FJ, Clement A, Collaco JM, Dang H, Dang AT, Franca A, Gong J, Guillot L, Keenan K, Li W, Lin F, Patrone MV, Raraigh KS, Sun L, Zhou YH, O’Neal WK, Sontag MK, Levy H, Durie PR, Rommens JM, Drumm ML, Wright FA, Strug LJ, Cutting GR, Knowles MR. Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis. Nat Commun. 2015 Sep 29;6:8382. doi: 10.1038/ncomms9382. PubMed PMID: 26417704; PubMed Central PMCID: PMC4589222.
  2. Shapiro AJ, Zariwala MA, Ferkol T, Davis SD, Sagel SD, Dell SD, Rosenfeld M, Olivier KN, Milla C, Daniel SJ, Kimple AJ, Manion M, Knowles MR, Leigh MW; Genetic Disorders of Mucociliary Clearance Consortium. Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review. Pediatr Pulmonol. 2015 Sep 29. doi: 10.1002/ppul.23304. [Epub ahead of print] PubMed PMID: 26418604.
  3. Emond MJ, Louie T, Emerson J, Chong JX, Mathias RA, Knowles MR, Rieder MJ, Tabor HK, Nickerson DA, Barnes KC; NHLBI GO Exome Sequencing Project, Go L, Gibson RL, Bamshad MJ. Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis. PLoS Genet. 2015 Jun 5;11(6):e1005273. doi: 10.1371/journal.pgen.1005273. eCollection 2015 Jun. Erratum in: PLoS Genet. 2015 Aug;11(8):e1005424. PubMed PMID: 26047157; PubMed Central PMCID: PMC4457883.
  4. Emond MJ, Louie T, Emerson J, Chong JX, Mathias RA, Knowles MR, Rieder MJ, Tabor HK, Nickerson DA, Barnes KC; NHLBI GO Exome Sequencing Project, Go L, Gibson RL, Bamshad MJ. Correction: Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis. PLoS Genet. 2015 Aug 18;11(8):e1005424. doi: 10.1371/journal.pgen.1005424. eCollection 2015 Aug. PubMed PMID: 26284524; PubMed Central PMCID: PMC4540584.
  5. Fedick AM, Jalas C, Treff NR, Knowles MR, Zariwala MA. Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population. Mol Genet Genomic Med. 2015 Mar;3(2):137-42. doi: 10.1002/mgg3.124. Epub 2014 Dec 6. PubMed PMID: 25802884; PubMed Central PMCID: PMC4367086.
  6. O’Neal WK, Gallins P, Pace RG, Dang H, Wolf WE, Jones LC, Guo X, Zhou YH, Madar V, Huang J, Liang L, Moffatt MF, Cutting GR, Drumm ML, Rommens JM, Strug LJ, Sun W, Stonebraker JR, Wright FA, Knowles MR. Gene expression in transformed lymphocytes reveals variation in endomembrane and HLA pathways modifying cystic fibrosis pulmonary phenotypes. Am J Hum Genet. 2015 Feb 5;96(2):318-28. doi: 10.1016/j.ajhg.2014.12.022. Epub 2015 Jan 29. PubMed PMID: 25640674; PubMed Central PMCID: PMC4320265.
  7. Davis SD, Ferkol TW, Rosenfeld M, Lee HS, Dell SD, Sagel SD, Milla C, Zariwala MA, Pittman JE, Shapiro AJ, Carson JL, Krischer JP, Hazucha MJ, Cooper ML, Knowles MR, Leigh MW. Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype. Am J Respir Crit Care Med. 2015 Feb 1;191(3):316-24. doi: 10.1164/rccm.201409-1672OC. PubMed PMID: 25493340; PubMed Central PMCID: PMC4351577.