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The programme will focus on "How to use new genetic methods in clinical diagnostics of rare skin diseases" with interactive discussion and talks:

Sunday, May 14th

17.00
Welcome and introduction to the theme and ERN Skin network
Annamari Ranki, Professor and Chairperson, Department of Dermatology and allergology, University of Helsinki and Helsinki University Hospital (HUH)
17.30
Common and rare subtypes of Epidermylosis Bullosa: from clinic to molecular diagnosis,
Maya el-Hachem, professor Pediatric Dermatology Unit, Bambino Gesú Children’s Hospital, IRCCS, Rome, Italy
18.15
Discussion
18.30
Departure for Dinner on board and archipelago cruising

Monday May 15th

09.00
Rare Diseases – the need for registries, networking and collaboration
Dr. Mikko Seppänen, Director, HUH Rare Diseases Unit (HAKE)

09.40
How to identify disease causing mutations with novel genomics methods? - Clinical examples
Janna Saarela, Research Director and Head of the FIMM Technology Center

10.10
Genodermatoses: not only genes
Smail Hadj-Rabia professor, Department of Dermatalogy, referral Center for Genodermatoses (MAGEC) Imagine Institute, Necker-Enfants maladies Hospital (AP-HP), Paris, France

11.10
Role of a clinical geneticist in genodermatoses
Sirpa Kivirikko, Ass.professor, Department of Clinical Genetics, University of Helsinki and HUH

11.50
How should dermatologists and clinical geneticists work in unison? - Patient case example Palmoplantar keratodermas
Katariina Hannula-Jouppi, Ass. professor, Section Chief, Department of Dermatology and allergology University of Helsinki and HUH and Sirpa Kivirikko

12.30
Lunch

13.30
Patient case examples: eczemas that turned out to be genodermatoses
Katariina Hannula-Jouppi

14.00
Neurofibromatosis type 1 (NF1) gene: Beyond café au lait spots and dermal neurofibromas
Sirkku Peltonen, Ass.professor, Department of Dermatology, University of Turku and Turku University Hospital

14.30
Autoinflammatory syndromes with skin involvement
Mikko Seppänen

15.00
Short break

15.15
Skin transcriptomics as a new source of diagnostic markers in skin disorders
Juha Kere, Professor of Genetics & Molecular Medicine, King’s College, London, and Professor of Molecular Genetics, Karolinska Institutet, Stockholm

16.00
Interactive discussion
Katariina Hannula-Jouppi, Annamari Ranki

16.30
Adjourn

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