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WhenSaturday 2nd November 2019, 9am-5pm
WhereKennedy Lecture Theatre, UCL GOS Institute of Child Health, 30 Guilford Street, London WC1N 1EH
Registration https://www.eventbrite.com/e/london-international-mosaicism-symposium-tickets-63148450716
WelcomeWelcome to the 2nd London International Mosaicism Symposium! Mosaicism is an area of rapid expansion of knowledge, and cutaneous mosaicism has the edge in this field due to the longstanding clinical descriptions and accessibility of tissue sampling. This meeting is for anyone interested in mosaicism in general, and cutaneous mosaicism in particular. The programme is packed with the best speakers in the field from around the world, each with different perspectives and experience, and talks will therefore be a mixture of clinical and scientific. The audience will be drawn from Medical specialties including Dermatology, Paediatrics and Clinical Genetics, and from Scientific specialities including Dermatology, Genetics and Cancer.
In the interests of furthering knowledge and advancing science in this field this meeting is free to attend. This has been made possible by the generous support of the Livingstone Skin Research Centre at UCL Great Ormond Street Institute of Child Health. Catering will not be provided, however there is an on-site café and canteen within the ICH, and many excellent cafés and restaurants in the surrounding streets. Although the meeting is free, registration is required online via the link above.
I hope you can join us for what will be a stimulating and fascinating day.
With best wishes,
Veronica Kinsler
Preliminary programme
Saturday 2nd November 2019
Session 1 Speaker Topic – title TBC08.30-9.00 Registration and Welcome9.00-9.30 Dr Veronica Kinsler – University
College London, UKCutaneous mosaicism - a unique model for fundamental scientific questions
9.30-9.45 Dr Alan Pittman – Bioinformatics, St. George’s Hospital, London, UK
Optimising NGS pipelines for detection of low level mosaics
9.45-10.00 Dr Victor Martinez-Glen – Hospital Universitario La Paz, Madrid, Spain
Mosaicism in capillary malformation-arteriovenous malformation syndrome
10.00-10.30 Dr Kavita Sarin, Stanford University Medical Center, USA
ACTB mosaicism and recent insights into the sonic hedgehog pathway
10.30-11.00 Coffee break
Session 211.00-11.30 TBC Advances in transdermal drug
delivery 11.30-11.45 Dr Arthur Sorlin – Centre Hospitalier
Universitaire de Dijon, FranceDetection of chromosomal mosaicism using next generation sequencing
11.45-12.00 Dr Virginie Carmagnac – Centre Hospitalier Universitaire de Dijon, France
MTOR-related hypomelanosis of Ito: Phenotypic spectrum
12.00-12.30 Prof Rudolf Happle – University of Freiburg, Germany
Mosaic manifestations of generalised skin diseases
12.30-13.30 Lunch break
Session 313.30-14.00 Dr Mitchell Machiela – National
Institute of Health, USAAge-related clonal mosaicism in circulating leukocytes
14.00-14.15 Dr Satyamaanasa Polubothu – University College London, UK
Phakomatosis pigmentovascularis type III/spilorosea - the latest
14.15-14.30 Dr Melissa Riachi – University College London, UK
Inflammatory linear verrucous epidermal naevus – the latest
14.30-15.00 Dr Antonio Torrelo – Hopital Nino Jesus, Madrid, Spain
Unsolved cutaneous mosaic phenotypes
15.00-15.30 Coffee break
Session 415.30-16.00 Prof Pierre Vabres – Centre Targeted therapies in mosaic
Hospitalier Universitaire de Dijon, France
disorders
16.00-16.30 Prof Robert Semple, University of Edinburgh, UK
Molecular mechanisms driving overgrowth in mosaic disorders
16.30-17.00 Kari Stefansson – deCODE Genetics, Iceland
Germline de novo mutations and somatic mosaicism
17.00-17.05 Meeting close