Ciliopathies
A reference for clinicians
Edited by Thomas D. Kenny and Philip L. Beales
Author Information
Edited by Thomas D. Kenny, National Institute for Health Research Evaluations, Trials and Studies Coordinating Centre, University of Southampton, UK, and Philip L. Beales, Professor of Medical and Molecular Genetics, UCL Institute of Child Health, London, UK
Philip Beales is Professor of Medical and Molecular Genetics at UCL and Wellcome Trust Senior Research Fellow in Clinical Science. He is Director of the Centre for Translational Genomics (GOSgene) and Head of the Cilia Disorders Laboratory at the UCL Institute of Child Health. He is best known for his clinical and genetic research into rare diseases especially, the ciliopathies, culminating in novel gene discoveries for Bardet-Biedl syndrome, Jeune Asphyxiating Thoracic Dystrophy, Cranioectodermal dysplasia, Acrocallosal Syndrome and several other disorders. He, with colleagues, was the first to attribute the Bardet-Biedl syndrome phenotype to dysfunctional primary cilia. Philip is a consultant in clinical genetics at Great Ormond Street Hospital for Children and Guys Hospital; National lead for the Department of Health specialist commissioned Bardet-Biedl syndrome clinical and diagnostic service; chairman of the UCL Rare Diseases Steering Committee and co-editor in Chief of CILIA.
Contributors:
Philip L. Beales, Institute of Child Health, University College London, UK
Thomas D. Kenny, National Institute for Health Research Evaluations, Trials and Studies Coordinating Centre, University of Southampton, UK
Richard Paisey, Torbay Hospital, South Devon Healthcare NHS Foundation Trust
Miriam Schmidt, Institute of Child Health, University College London, UK
Victoria Harrison, Department of Clinical Genetics, Southampton Region Clinical Genetics Service, UK
Andrea H. Nemeth, Nuffield Department of Clinical Neurosciences, University of Oxford, UK
Elizabeth Forsythe, Institute of Child Health, University College London, UK
Ronald Roepman, Nijmegen Medical Centre, St. Radboud University, The Netherlands
Gabrielle Wheway, Leeds Institute of Molecular Medicine, St James's University Hospital, UK
Colin A. Johnson, Leeds Institute of Molecular Medicine, St James's University Hospital, UK
Shalabh Srivastava, Institute of Genetic Medicine, Newcastle University, UK
John A. Sayer, Institute of Genetic Medicine, Newcastle University, UK
Brunella Franco, Telethon Institute for Genetics and Medicine, Napoli, UK
Richard Sandford, Academic Laboratory of Medical Genetics, University of Cambridge, UK
Carsten Bergman, Department of Nephrology at the University Hospital Freiburg, Germany
Claire Hogg, Royal Brompton and Harefield NHS Foundation Trust, UK
Maria Bitner-Glindzicz, Institute of Child Health, University College London, UK
Zubin Saihan, Institute of Ophthalmology, University College London, UK
Kate Baker, Department of Medical Genetics, Addenbrooke's Hospital, Cambridge, UK
