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