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: Development and first results of the BEAT-PCD international Primary Ciliary Dyskinesia gene variant database: CiliaVar

Researchers

Presenter

  • Rahma Mani

Principal Investigators

  • Mafalda Gomes

  • Adrián Rodríguez González

  • Claire Hogg

  • Deborah Morris-Rosendahl

  • Bernard Maitre

  • Mahmoud R Fassad

  • Myrofora Goutaki

  • Jane S Lucas

  • Amelia Shoemark

  • Hannah M Mitchison

  • Marie Legendre

  • Suzanne Crowley

Medical Centers

  • University of Dundee and Royal Brompton Hospital, Dundee, United Kingdom

  • Genetics and Genomic Medicine Department, University College London, UCL Great Ormond Street Institute of Child Health; University of Dundee, London, United Kingdom

  • Genetics and Genomic Medicine Department, University College London, UCL Great Ormond Street Institute of Child Health; University of Dundee, London, United Kingdom

  • Royal Brompton Hospital and Imperial College, London, United Kingdom

  • Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland

  • Sorbonne Université, Inserm UMR_S933 Génétique des maladies pédiatriques, Hôpital Armand-Trousseau, Paris; Unité de recherche “Biologie moléculaire des leucémies et lymphomes”, UR14ES19, Faculté de Médecine de Sousse, Université de Sousse, Sousse, Paris, France

  • Université Paris Est Créteil, Centre hospitalier intercommunal de Créteil, Paris, France

  • Clinical Genetics and Genomics Laboratory, Royal Brompton Hospital and Imperial College, London, United Kingdom

  • University of Southampton Faculty of Medicine, School of Clinical and Experimental Medicine, Southampton, United Kingdom

  • Paediatric Department of Allergy and Lung Diseases, Oslo, Norway

  • Sorbonne Université, Inserm UMR_S933 Génétique des maladies pédiatriques, Hôpital Armand-Trousseau, Paris, France

Locations

  • Norway

  • United Kingdom

  • France

  • Switzerland

Companies

  • N/A

Study Components

Therapeutic Area

  • Pulmonary/Respiratory Diseases

  • Genetic Disorder

Disease

  • Primary ciliary dyskinesia

Biomarkers

  • N/A

Drug/Treatment

  • N/A

Outcome

  • N/A

Study Design

  • Multinational

Phase

  • N/A

Study Id's

  • N/A

Sponsors

  • N/A

Result

  • N/A

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