Washington University in Saint Louis

St Louis Children's Hospital
Thomas Ferkol, MD
Principal investigator, Genetic Diseases of Mucociliary Clearance Consortium
314-454-2694
314-454-2515 fax

Barnes-Jewish Hospital
Jeffrey Atkinson, MD

Site co-investigator, Genetic Diseases of Mucociliary Clearance Consortium
314-454-8640
314-454-5919 fax

 

Contact Information:

Jane Quante, RN
Research Coordinator, Genetic Diseases of Mucociliary Clearance Consortium
Washington University in St. Louis
660 South Euclid Avenue
Campus Box 8116
St. Louis, MO 63110
314-454-2353
314-454-6241 fax

 

About Us:

For more than a century, Washington University School of Medicine and its teaching hospitals, Barnes-Jewish Hospital and St. Louis Children's Hospital, has educated leading physicians and scientists, and is committed to excellence in patient care, basic and clinical research, and teaching. Indeed, Washington University is one of the original sites for the Genetic Diseases of Mucociliary Clearance Consortium (GDMCC), and has been central to the study of rare chronic suppurative lung diseases and bronchiectasis.

Children's Hospital Logo St. Louis Children's Hospital

Image of the Saint Louis Children's HospitalThe Washington University Division of Pediatric Allergy, Immunology, and Pulmonary Medicine at St. Louis Children's Hospital has a strong commitment to training, research, and clinical care, supporting premier clinical and research programs in pulmonary diseases of children. Consistently recognized as one of America’s best pulmonary services, the Division has experienced remarkable growth in many areas, and its faculty gained international reputations for their clinical expertise and translational investigations in childhood lung diseases.

Barnes Jewish Hospital Logo Barnes-Jewish Hospital

Image of the Barnes Jewish HospitalThe Washington University Division of Pulmonary and Critical Care Medicine is one of the premier academic divisions in the country, offering excellent clinical care and advancing the field of pulmonary and critical care medicine through research and education of the next generation of leaders. Working at Barnes-Jewish Hospital, it faculty are committed to providing patients with useful, up-to-date information about lung disease and its treatment, and the Jacqueline Maritz Lung Center is known for its team approach to compassionate, expert care.

 

Publications

  1. Horani A, Druley TE, Zariwala MA, Levinson BT, Van Arendonk LG, Thornton KC, Giacalone JC, Albee AJ, Wilson KS, Turner EH, Nickerson DA, Shendure J, Patel AC, PV, Leigh MW, Knowles MR, Brody Sl, Dutcher SK, Ferkol TW: Whole exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. American Journal of Human Genetics 2012;91:685-93
  2. Ferkol T, Leigh M: Pediatric ciliopathies: the central role of cilia in a spectrum of pediatric disorders. Journal of Pediatrics 2012;160:366-71
  3. Knowles MR, Leigh MW, Carson JL, Davis SD, Dell SD, Ferkol TW, Olivier KN, Sagel SD, Rosenfeld M, Burns KA, Minnix SL, Armstrong MC, Lori A, Hazucha MJ, Loges NT, Olbrich H, Becker-Heck A, Schmidts M, Werner C, Omran H, Zariwala MA, and the Genetic Disorders of Mucociliary Clearance Consortium: Mutations of DNAH11 in primary ciliary dyskinesia patients with normal ciliary ultrastructure. Thorax 2012;67:433-41
  4. Jain R, Javidan-Nejad C, Alexander-Brett J, Horani A, Cabellon MC, Walter MJ, Brody SL: Sensory functions of motile cilia and implication for bronchiectasis. Frontiers in Bioscience 2012;4:1088-98
  5. Knowles MR, Leigh MW, Ostrowski LE, Huang L, Carson JL, Hazucha MJ, Yin W, Berg JS, Davis SD, Dell SD, Ferkol TW, Rosenfeld M, Sagel SD, Milla CE, KN Oliver, Turner H, Mackenzie AL, Bamshad M, Nickerson DA, Shendure J, Zariwala MA: Exome sequencing identifies CCDC114 as a novel gene causing primary ciliary dyskinesia associated with defective outer dynein arms American Journal of Human Genetics. 2013;92:99-106
  6. Lin H, Nauman NP, Albee AJ, Hsu S, Dutcher SK: New mutations in flagellar motors identified by whole genome sequencing in Chlamydomonas. Cilia. 2013;2:14
  7. Antony D, Becker-Heck A, Zariwala MA, Schmidts M, Onoufriadis A, Forouhan M, Wilson R, Cox T, Dewar A, Jackson C, Goggin P, Loges NT, Olbrich H, Jaspers M, Jorissen M, Leigh MW, Wolf WE, Daniels LM, Noone PG, Ferkol TW, Sagel SD, Rosenfeld M, Rutman A, Dixit A, O’Callaghan C, Lucas JS, Hogg C, Emes R, Chung EMK, Shoemark A, Knowles MR, Omran H, Mitchison HM: Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. Human Mutations 2013;34:462-72
  8. Ferkol TW, Puffenberger EG, Lie H, Helms C, Strauss KA, Bowcock A, Carson JL, Hazucha MJ, Morton DH, Leigh MW, Knowles MR, Zariwala MA: Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities. Journal of Pediatrics 2013;163:383-7
  9. Vladar EK, Brody SL: Analysis of ciliogenesis in primary culture mouse tracheal epithelial cells. Methods in Enzymology 2013;525:285-309
  10. Knowles MR, Ostrowski LE, Loges NT, Hurd T, Leigh MW, Huang L, Wolf WE, Carson JL, Hazucha MJ, Yin W, Davis SD, Dell SD, Ferkol TW, Sagel SD, Olivier KN, Jahnke C, Olbrich H, Werner C, Raidt J, Wallmeier J, Pennekamp P, Dougherty GW, Hjeij R, Gee HY, Otto EA, Halbritter J, Chaki M, Diaz K, Braun DA, Porath JD, Schueler M, Baktai G, Griese M, Turner EH, Lewis AP, Bamshad MJ, Nickerson DA, Hildebrandt F, Shendure J, Omran H, Zariwala MA: Exome sequencing identifies germline mutations in SPAG1 as a cause of primary ciliary dyskinesia associated with defective outer and inner dynein arms. American Journal of Human Genetics 2013;93:711-20
  11. Horani A, Brody SL, Ferkol TW, Shoseyov D, Wasserman MG, Ta-shma A, Wilson KS, Bayly PV, Amirav I, Cohen-Cymberknoh M, Dutcher SK, Elpeleg O, Kerem E: CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia. PLOS One 2013;8:e72299
  12. Zariwala MA, Gee HY, Kurkowiak M, Al-Mutairi DA, Leigh MW, Hurd TW, Hjeij R, Dell SD, M, Dougherty GW, Adan M, Spear PC, Esteve J, Loges NT, Rosenfeld M, Diaz K, Olbrich H, Wolf WW, Sheridan E, Batten TF, Halbritter J, Porath JD, Kohl S, Lovric S, Hwang DY, Pittman JE, Burns KA, Ferkol TW, Sagel SD, Olivier KN, Morgan LC, Werner C, Raidt J, Pennekamp P, Sun Z, Zhou W, Airik R, Allen SJ, Amirav I, Wieczorek D, Landwehr K, Nielsen K, Schwerk N, Sertic J, Köhler G, Washburn J, Levy S, Fan S, Koerner-Rettberg C, Amselem S, Williams DS, Drummond AI, Otto EA, Omran H, Knowles MR, Hildebrandt FH: ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. American Journal of Human Genetics 2013;93:336-45
  13. Li A, Chan B, Felix JC, Xing Y, Li M, Brody SL, Borok Z, Li C, Minoo P. Tissue-dependent consequences of Apc inactivation on proliferation and differentiation of ciliated cell progenitors via Wnt and notch signaling. PLOS One 2013;30:e62215
  14. Austin-Tse C, Halbritter J, Zariwala MA, Gilberti RM, Gee HY, Hellman N, Pathak N, Liu Y, Panizzi JR, Patel-King RS, Tritschler D, Bower R, O'Toole E, Porath J, Hurd TW, Chaki M, Diaz KA, Kohl S, Lovric S, Hwang DY, Braun DA, Schueler M, Airik R, Otto EA, Leigh MW, Noone PG, Carson JL, Davis SD, Pittman JE, Ferkol TW, Atkinson JJ, Olivier KN, Sagel SD, Dell SD, Rosenfeld M, Milla CE, Loges NT, Omran H, Porter ME, King SM, Knowles MR, Drummond IA, Hildebrandt F: Zebrafish ciliopathy screen reveals C21orf59 and CCDC65 defects as causing human primary ciliary dyskinesia. American Journal of Human Genetics 2013;93:672-86
  15. Leigh MW, Hazucha MJ, Chawla KK, Baker BR, Brown DE, LaVange LM, Horton BJ, Qaqish B, Carson JL, Davis SD, Dell SD, Ferkol TW, Atkinson JJ, Olivier KN, Sagel SD, Rosenfeld M, Milla C, Lee HS, Krisher J, Zariwala MA, Knowles MR, and the Genetic Disorders of Mucociliary Clearance Consortium: Standardizing nasal nitric oxide measurement as a diagnostic test for primary ciliary dyskinesia. Annals of the American Thoracic Society 2013;10:574-81
  16. Horani A, Brody SL, Ferkol T: Picking up speed: advances in the genetics of primary ciliary dyskinesia. Pediatric Research 2014;75:158-64
  17. Knowles MR, Ostrowsk LE, Leigh MW, Sears PR, Davis SD, Wolf WE, Hazucha MJ, Carson JL, Olivier KN, Sagel SD, Rosenfeld M, Ferkol TW, Dell SD, Milla CE, Randell SH, Yin W, Sannuti A, Metjian HM, Noone PG, Noone P, Olson CA, Patrone M, Dang H, Genetic Disorders of Mucociliary Clearance Consortium Team, NHLBI GO Exome Sequencing Project and Family Studies Project Team, Lee H-S, Hurd T, Gee HY, Otto EA, Halbritter J, Kircher M, Krischer J, Bamshad MJ, Nickerson DA, Hildebrandt F, Jay Schendure J, Zariwala MA: Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. American Journal of Respiratory and Critical Care Medicine 2014;189:707-17
  18. Pan JH, Adair-Kirk TL, Patel AC, Huang T, Yozamp NS, Xu J, Reddy EP, Byers DE, Pierce RA, Holtzman MJ, Brody SL: Myb permits multilineage airway epithelial cell differentiation. Stem Cells 2014;32:3245-56
  19. Shapiro A, Davis S, Ferkol T, Dell S, Rosenfeld M, Olivier K, Sagel S, Milla C, Zariwala MA, Wolf W, Carson JL, Hazucha MJ, Burns K, Robinson B, Knowles M, Leigh M for the Genetic Disorders of Mucociliary Clearance Consortium: Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy. Chest 2014;146:1176-86
  20. Davis SD, Ferkol TW, Rosenfeld M, Lee H-S, Dell SD, Sagel SD, Milla C, Zariwala MA, Pittman J, 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. American Journal of Respiratory and Critical Care Medicine 2015;191:316-24
  21. Morgan WJ, VanDevanter DR, Pasta DJ, Foreman AJ, Wagener JS, Konstan MW; Scientific Advisory Group; Investigators and Coordinators of the Epidemiologic Study of Cystic Fibrosis Forced expiratory volume in 1 second variability helps identify patients with cystic fibrosis at risk of greater loss of lung function. Journal of Pediatrics 2016;169:116-21
  22. Bayly PV, Dutcher SK. Steady dynein forces induce flutter instability and propagating waves in mathematical models of flagella. Journal of the Royal Society Interface 2016;13.pii: 20160523
  23. Poindexter BB, Feng R, Schmidt B, Aschner JL, Ballard RA, Hamvas A, Reynolds AM, Shaw PA, Jobe JH, Prematurity and Respiratory Outcomes Program: Comparisons and limitations of current definitions of bronchopulmonary dysplasia for the Prematurity and Respiratory Outcomes Program. Annals of the American Thoracic Society 2015;12:1822-30
  24. 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. Pediatric Pulmonology 2016;51:115-32
  25. Leigh MW, Ferkol TW, Davis SD, Lee HS, Rosenfeld M, Dell SD, Sagel SD, Milla C, Olivier KN, Kelli Sullivan K, Zariwala MA, Pittman J, Shapiro AJ, Carson JL, Krischer J, Hazucha MJ, Knowles MR: Clinical features and associated likelihood of primary ciliary dyskinesia in children and adolescents. Annals of the American Thoracic Society 2016;13:1305-13
  26. Horani H, Ferkol TW, Dutcher S, Brody SL: Genetics of primary ciliary dyskinesia. Paediatric Respiratory Reviews 2016;18:18-24
  27. Horani A, Ferkol TW: Primary ciliary dyskinesia and associated sensory ciliopathies. Expert Reviews in Respiratory Medicine 2016;28:1-8
  28. Dutcher SK, O'Toole ET: The basal bodies of Chlamydomonas reinhardtii. Cilia. 2016;5:18. eCollection
  29. Xu G, Wilson KS, Okamoto RJ, Shao JY, Dutcher SK, Bayly PV: Flexural rigidity and shear stiffness of flagella estimated from induced bends and counterbends. BiophysIcal Journal. 2016;110:2759-2768.
  30. Dell SD, Leigh MW, Lucas MW, Ferkol TW, Knowles MR, ALpern A, Behan L, Morris AM, Hogg, C, Dunn-Galvin, Quittner AL: Primary ciliary dyskinesia: first health-related quality of life measures for pediatric patients. Annals of the American Thoracic Society 2016;13:1726-1735
  31. Goutaki M, Maurer E, Halbeisen FS, Amirav I, Barbato A, Behan L, Boon M, Casaulta C, Clement A, Crowley S, Haarman E, Hogg C, Karadag B, Koerner-Rettberg C, Leigh MW, Loebinger MR, Mazurek H, Morgan L, Nielsen KG, Omran H, Schwerk N, Scigliano S, Werner C, Yiallouros P, Zivkovic Z, Lucas JS, Kuehni CE; PCD Italian Consortium; Swiss PCD Group; French Reference Centre for Rare Lung Diseases; Genetic Disorders of Mucociliary Clearance Consortium: The international primary ciliary dyskinesia cohort (iPCD Cohort): methods and first results. European Respiratory Journal 2017;49.pii: 1601181
  32. Shapiro AJ, Davis SD, Polineni D, Manion M, Rosenfeld M, Dell SD, Chilvers, MA, Ferkol TW, Zariwala, MA, Sagel SD, Josephson M, Morgan L, Yilmaz O, Olivier KN, Milla C, Pittman JE, Daniels MLA, Jones MH, Janahi AI, Ware SM, Daniel JD, Cooper ML, Nogee LM, Anton B, Eastvold T, Ehrne L, Guadagno E, Knowles MR, Leigh MW, Lavergne V: An Official ATS Clinical Practice Guideline: Diagnosis of primary ciliary dyskinesia. American Journal of Respiratory and Critical Care Medicine 2018;197:e24-e39
  33. Goutaki M, Halbeisen FS, Spycher BD, Maurer E, Belle F, Amirav I, Behan L, Boon M, Carr S, Casaulta C, Clement A, Crowley S, Dell S, Ferkol T, Haarman EG, Karadag B, Knowles M, Koerner-Rettberg C, Leigh MW, Loebinger MR, Mazurek H, Morgan L, Nielsen KG, Phillipsen M, Sagel SD, Santamaria F, Schwerk N, Yiallouros P, Lucas JS, Kuehni CE; PCD Israeli Consortium; Swiss PCD Group; French Reference Centre for Rare Lung Diseases: Growth and nutritional status, and their association with lung function: a study from an international primary ciliary dyskinesia cohort. European Respiratory Journal 2017;50;pii: 1701659
  34. Yamamoto R, Obbineni JM, Alford LM, Ide T, Owa M, Hwang J, Kon T, Inaba K, James N, King SM, Ishikawa T, Sale WS, Dutcher SK: Chlamydomonas DYX1C1/PF23 is essential for axonemal assembly and proper morphology of inner dynein arms. PLOS Genet 2017;13:e1006996
  35. Lin H, Zhang Z, Iomini C, Dutcher SK: Identifying RNA splicing factors using IFT genes in Chlamydomonas reinhardtii. Open Biology 2018;8: pii: 170211. doi: 10.1098/rsob.170211
  36. Hunter EL, Lechtreck K, Fu G, Hwang J, Lin H, Gokhale A, Alford LM, Lewis B, Yamamoto R, Kamiya R, Yang F, Nicastro D, Dutcher SK, Wirschell M, Sale WS: The IDA3 adapter, required for intraflagellar transport of I1 dynein, is regulated by ciliary length. Molecular Biology of the Cell 2018;29:886-96
  37. Huizar RL, Lee C, Boulgakov AA, Horani A, Tu F, Marcotte EM, Brody SL, Wallingford JB. A liquid-like organelle at the root of motile ciliopathy. Elife. 2018 Dec 18;7. pii: e38497
  38. Horani A, Ferkol TW: Advances in the genetics of primary ciliary dyskinesia: clinical implications. Chest 2018;154:645-52
  39. Oltean A, Schaffer AJ, Bayly PV, Brody SL. Quantifying ciliary dynamics during assembly reveals stepwise waveform maturation in airway cells. American Journal of Respiratory Cell and Molecular Biology 2018;59:511-22.
  40. Horani A, Ustione A, Huang T, Firth AL, Pan J, Gunsten SP, Haspel JA, Piston DW, Brody SL. Establishment of the early cilia preassembly protein complex during motile ciliogenesis. Proceedings of the National Academy of Science, USA. 2018;115:E1221-8
  41. Davis SD, Rosenfeld M, Lee HS, Ferkol TW, Sagel SD, Dell SD, Milla C, Pittman JE, Shapiro AJ, Daniels MLA, Zariwala, MA, Knowles MR, Leigh MW: Primary ciliary dyskinesia: longitudinal study of lung disease by ultrastructure defect and genotype. American Journal of Respiratory and Critical Care Medicine 2018;199:190-8
  42. Lin H, Guo S, Dutcher SK: RPGRIP1L helps to establish the ciliary gate for entry of proteins. Journal of Cell Science 2018;131:pii: jcs220905. doi:10.1242/jcs.220905
  43. Bottier M, Thomas KA, Dutcher SK, Bayly PV: How does cilium length affect beating? Biophysical Journal. 2019;116:1292-304
  44. Wallmeier J, Frank D, Shoemark A, Nöthe-Menchen T, Cindric S, Olbrich H, Loges NT, Aprea I, Dougherty GW, Pennekamp P, Kaiser T, Mitchison HM, Hogg C, Carr SB, Zariwala MA, Ferkol T, Leigh MW, Davis SD, Atkinson J, Dutcher SK, Knowles MR, Thiele H, Altmüller J, Krenz H, Wöste M, Brentrup A, Ahrens F, Vogelberg C, Morris-Rosendahl DJ, Omran H: De novo mutations in FOXJ1 result in a motile ciliopathy 1 with hydrocephalus and two randomization of left/right body asymmetry. American Journal of Human Genetics. 2019;105:1030-9
  45. Ma M, Stoyanova M, Rademacher G, Dutcher SK, Brown A, Zhang R: Structure of the decorated ciliary doublet microtubule. Cell. 2019;179909-922.e12
  46. Dutcher SK, Brody SL: HY-DIN' in the cilia: Discovery of central pair-related mutations in primary ciliary dyskinesia. American Journal of Respiratory Cell and Molecular Biology 2019;doi: 10.1165/rcmb.2019-0316ED
  47. Nanjundappa R, Kong D, Shim K, Stearns T, Brody SL, Loncarek J, Mahjoub MR: Regulation of cilia abundance in multiciliated cells. Elife. 2019;8.pii:e44039
  48. Horani A, Brody SL: Frequenting sequencing: how genetics teaches us cilia biology. American Journal of Respiratory Cell and Molecular Biology 2019;61:403-4
  49. Vece TJ, Sagel SD, Zariwala MA, Sullivan KM, Burns KA, Dutcher SK, Yusupov R, Leigh MW, Knowles MR.: Cytoplasmic "ciliary inclusions" in isolation are not sufficient for the diagnosis of primary ciliary dyskinesia. Pediatric Pulmonology. 2020;55:130-5
  50. Dutcher SK: Asymmetries in the cilia of Chlamydomonas. Philosophical Transactions of the Royal Society B: Biological Sciences. 2020;375:20190153