International Symposium: Mosaicism in Dermatology and Clinical Genetics
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International Symposium: Mosaicism in Dermatology and Clinical Genetics

International Symposium: Mosaicism in Dermatology and Clinical Genetics

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Kennedy Lecture Theatre

UCL Institute of Child Health

Guilford Street

London, United Kingdom

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This international symposium on Mosaicism in Dermatology and Clinical Genetics brings together the foremost clinicians and researchers in the field for a review of the latest advances.  The event will be chaired by one of the greatest contributors over many decades, Professor Rudi Happle, Professor of Dermatology at Freiburg University, and will be followed by the delivery of the Otto Wolff lecture (OWL) by the eminent Dr. Leslie Biesecker, Chief of the Medical Genomics and Metabolic Branch and Director of the Physician-Scientist Development Program at the National Human Genome Research Institute of the National Institutes of Health, Bethesda, USA. Content will be relevant and informative for both clinicians and basic scientists.

PLEASE NOTE - TICKETS FOR THE MOSAICISM CONFERENCE COST £15 FOR UCL/GOSH STAFF, AND £50 FOR ALL OTHERS.  AFTER REGISTERING ON THIS SITE YOU WILL BE SENT AN EMAIL WHERE THE TICKETS CAN BE PAID FOR.  THE O.W.L. IS FREE TO ATTEND, AND A PLACE WILL AUTOMATICALLY BE RESERVED FOR ATTENDEES AT THE MOSAICISM SYMPOSIUM.

 

Final Programme

  

13.30-13.45     Introduction from the Expert Chair – A brief history of Mosaicism

Prof Rudolf Happle, Professor of Dermatology, Freiburg University Hospital, Freiburg, Germany

 

13.45-14.10     New mosaic phenotypes in Paediatric Dermatology

Dr Antonio Torrelo

Consultant Paediatric Dermatologist, El Hospital Infantil Universitario Niño Jesús, Madrid, Spain

 

14.10-14.35     How to detect a mosaic mutation

Dr Jean-Baptiste Rivière

Assistant Professor, McGill's Department of Human Genetics, Molecular Geneticist Core Molecular Diagnostic Lab; Principal Investigator, MUHC Research Institute, McGill University, Montreal, Canada 

 

14.35-15.00     What has human genetics taught us about PI-3-Kinase’s role in growth and metabolism?

Dr Robert Semple

Reader in Endocrinology and Metabolism, Wellcome Trust Senior Fellow; Honorary Consultant Endocrinologist, Addenbrooke’s Hospital, Cambridge, UK

  

15.00-15.30     Tea Break

 

15.30-15.55     Black and White Lines of Blaschko – new monogenic phenotypes

Prof Pierre Vabres

Professor of Dermatology, Dijon University Hospital, Dijon, France

 

15.55-16.10     Genotype-phenotype associations in vascular anomalies and overgrowth

Dr Satyamaanasa Polubothu

Research Fellow, Genetics and Genomic Medicine, UCL Institute of Child Health; Paediatric Dermatology, Great Ormond St Hospital for Children, London, UK

 

16.10-16.25     Dr Federica Buonocore – Title to be confirmed

 

16.25-16.50     Congenital melanocytic naevi - latest advances and lessons for normal development

Dr Veronica Kinsler

Wellcome Trust Intermediate Fellow, Principal Investigator, Genetics and Genomic Medicine, UCL Institute of Child Health;  Consultant Paediatric Dermatologist, Great Ormond St Hospital for Children, London, UK

            

17.00-18.00     Otto Wolff Lecture - Diagnosis and Treatment of Segmental Overgrowth Disorders: Towards a Molecular Taxonomy of Human Disease

Dr Leslie Biesecker

Chief & Senior Investigator, Medical Genomics and Metabolic Genetics Branch, Head, Clinical Genomics Section, National Institute of Health, Bethesda, USA

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Kennedy Lecture Theatre

UCL Institute of Child Health

Guilford Street

London, United Kingdom

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