italiano . english
Coordinating Centre:
Hospital of Padua
Department of Woman and Child Health
via Giustiniani 3, 35128 Padua
Phone number (Phone): +39 049-8218015
Fax number (fax): +39 049-8215430
E-mail: info@pcd-italia.it
26|11|13
"Clinical and molecular aspects of primary ciliary dyskinesia (PCD)"
Jerusalem - 29-30 January, 2014 read more
27|09|13
"Up to date on primary ciliary dyskinesia in children"
Pifferi M, Di Cicco M, Piras M, Cangiotti AM, Saggese G. Early Hum Dev. 2013 Aug 21. pii:..read more
4|02|13
"A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia."
Papon JF, Coste A, Roudot-Thoraval F, Boucherat M, Roger G, Tamalet A, Vojtek AM, Amselem S,..read more
4|02|13
"Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia."
Shoemark A, Dixon M, Corrin B, Dewar A.- J Clin Pathol. 2012 Mar;65(3):267-71 read more
News
26|11|13
"Clinical and molecular aspects of primary ciliary dyskinesia (PCD)"
PROGRAM
Wednesday, 29 January, 2014
08:30 – 09:00 Registration and Coffee
09:00 – 09:15 Greetings
Eitan Kerem MD, Hadassah Hebrew University Medical Center, Israel
Thomas Ferkol MD, Washington University School of Medicine, USA
Session 1 Clinical Features of Primary Ciliary Dyskinesia and other Ciliopathies
Session Chairs: Prof. Asher Tal, MD & Prof. Neville Bergman, MD
09:15 – 09:40 Thomas Ferkol, MD, Washington University School of Medicine, USA,
Clinical Concepts in Ciliopathies
09:40 – 09:50 Discussion
09:50 – 10:15 Angelo Barbato MD, University of Padua, Italy
Treatment Approach to PCD in Children
10:15 – 10:25 Discussion
10:15 – 10:35 Israel Amirav MD, Ziv Medical Center, Israel, The Israeli Consortium for PCD
10:35 – 10:45 Discussion
10:45 – 11:00 Coffee Break
11:00 – 11:20 Simon Edvardson MD, Hadassah Hebrew University Medical Center,
Israel, Spectrum of Clinical Diseases Caused by Primary Ciliopathies
11:20 – 11:30 Discussion
11:30 – 11:45 Malena Cohen Cymberknoh, MD, Hadassah Hebrew University Medical
Center, Israel, Clinical Features of Primary Ciliary Dyskinesia: Comparison with Cystic
Fibrosis
11:45 – 11:55 Discussion
12:00 – 13:00 Lunch Break
Session 2 Cilia genes, Proteins and Ciliogenesis
Session Chairs: Prof. Amir Kugelman, MD & Dr. David Shoseyov, MD
13:00-13:20 Heymut Omran, MD, University Hospital Muenster, Germany
Structure and Proteomic Analysis of the Human Cilium
13:20-13:30 Discussion
13:30-13:50 Steven Brody, MD Washington University School of Medicine, USA
Modeling Regulation of Ciliogenesis in Primary airway Epithelial Cells
13:50-14:00 Discussion
14:00 – 14:10 Coffee Break
14:10 -14:30 Susan Dutcher, PhD, Washington University School of Medicine, USA
Lessons Learned from Green Alga - Chlamydomonas reinhardtii
14:30-14:40 Discussion
14:40-15:00 Amjad Horani, MD, Washington University School of Medicine, USA
Use of Primary Human Airway Epithelial Cells to Model PCD Phenotypes
15:00-15:10 Discussion
15:10-15:25 David Shoseyov MD, Hadassah Hebrew University Medical Center, Israel,
Cilia Beat Frequency Measurements and Waveform Analysis – Pitfalls and Advances
15:25-15:35 Discussion
15:35 Guided tour of Jerusalem
Thursday 30 January, 2014
08:30 – 09:00 Coffee
Session 3 - Diagnostic Criteria and Genetic Testing for PCD
Session Chairs: Prof. Orly Elpeleg, MD & Prof. Amihud Singer, MD
09:00 – 09:20 Huda Mussafi MD, Schneider’s Children Medical Center, Petah Tikvah
The European Task force Project and the Israeli Experience
09:20 – 09:30 Discussion
9:30-9:50 Kim Nielsen, MD, Copenhagen University Hospital, Denmark
Nasal NO in PCD – What is it Good For?
9:50 – 10:00 Discussion
10:00 – 10:20 Orly Elpeleg MD, Hadassah Hebrew University Medical Center, Israel
The Exome Revolution in Diagnosing Rare Inherited Pediatric Disease
10:20 – 10:30 Discussion
10:30 – 10:50 Heymut Omran, MD, University Hospital Muenster, Germany
Genetic Testing in Primary Ciliary Dyskinesia
10:50 – 11:00 Discussion
11:00 - 11:15 Coffee Break
11:15 – 11:35 Hannah Mitchison, PhD, University College London (UCL), UK,
Genetic Analysis of PCD, Druze Population and Beyond
11:35 – 11:45 Discussion
11:45 – 12:05 Eitan Kerem MD, Hadassah Hebrew University Medical Center, Israel
New Diagnostic Criteria for Primary Ciliary Dyskinesia? The Experience from the
Hadassah PCD Clinic
12:05 – 12:15 Discussion
12:15 – 13:00 Lunch Break
Session 4 PCD, Laterality Defects and Novel Gene Candidates
Session Chairs: Dr. Amjad Horani, MD & Prof. Amnon Ariel, MD
(20 minute Talks, 10 minute Discussion)
13:00 – 13:20 Steven Brody, MD, Washington University School of
Medicine, Department of Medicine, Animal Models of PCD and Laterality Defects
13:20-13:30 Discussion
13:30 – 13:50 Yuval Cinnamon PhD, Hadassah Hebrew University Medical Center,
Israel, Mechanism of Lateralization
13:50-14:00 Discussion
14:00 – 14:10 Coffee Break
14:10 -14:30 Ruth Parvari PhD, Ben-Gurion University of the Negev, Israel, Search for
Genes Mutated in Lateralization Defects
14:30-14:40 Discussion
14:40-15:00 Amjad Horani, MD, Washington University School of Medicine, USA,
Novel PCD-Related Genes – Cilia and Beyond
15:00-15:10 Discussion
15:10-15:30 Kim Nielsen, MD, Copenhagen University Hospital, Denmark
The Upcoming RCT in BESTCILIA (bestcilia.eu) and the Best Outcome Measures in PCD
Trials
15:30-15:40 Discussion
15:40 – 15:45 Eitan Kerem MD, Hadassah Hebrew University Medical Center, Israel
Thomas Ferkol, MD, Washington University School of Medicine, USA
Closing Remarks