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Rare skin diseases: from clinic to gene and vice versa

Life and Matter Sciences International Symposium October 20-21, 2016 Madrid

General information

Venue: Fundación Ramón Areces, Vitruvio, 5. 28006. Madrid
Limited capacity

  • Free registration

Organized by:

Fundación Ramón Areces


Fernando Larcher Laguzzi CIEMAT-Universidad Carlos III de Madrid-IIS Fundación Jiménez Diaz CIBER Rare Diseases. Spain


Deputy Coordinator:

Yolanda Gilaberte Dermatology Unit. Hospital San Jorge Huesca. Director of the magazine Actas Dermo-Sifiliográficas. Spain

  • Description
  • Programme

Rare hereditary skin diseases, also known as genodermatoses, constitute about 7-8% of rare diseases and together represent a significant part of the pathology and dermatology clinic. Currently the genetic basis of about 400 genodermatoses, mostly monogenic diseases, have been elucidated which allows classification, molecular diagnosis and, to certain extent, understanding their pathogenic mechanisms. As with other types of rare diseases, often the consequences of genodermatosis are devastating for the patient and / or stigmatizing. Genodermatoses are grouped into:

  • Disorders of epithelial adhesiveness
  • Keratinization / cornification
  • Pigmentation
  • DNA repair
  • Connective tissue
  • Ectodermal dysplasias

Despite advances in the field, the main health problems and challenges posed by the variety of genodermatoses are: 1) the difficulty of molecular diagnosis of the disease (mutational analysis), which is essential for proper genetic counseling; 2) characterization of molecular interactions, biomarkers and secondary pathologies associated with the primary genetic defect and 3) the development of safe and effective curative treatments based on the causative molecular defect. While it is impossible to cover all entities, this symposium will present some of the most recent advances in the various large groups of genodermatoses and allow interaction between national and international experts in the subject.

The symposium is divided into 5 sections and a plenary lecture covering both the state of art in the clinical management of this set of diseases as well as current research and future prospects.

Five main topics will be developed:

  1. Keratinization disorders including developments in research and clinical trials
  2. Diseases of dermo-epidermal fragility emphasizing its problems in Spain as well as new therapeutic approaches to clinical and pre-clinical level
  3. DNA rapair diseases with the discovery and characterization of new genes and new lines of research
  4. Ectodermal dysplasias and the relationship between genotypes and clinical manifestations
  5. A section of Vascular diseases-cancer of genetic origin and its most relevant clinical aspects

The proposed topics depict the latest developments and the invited speakers are among the leading figures at national and international level in this field.

Thursday, 20


Welcome and introduction

Federico Mayor Zaragoza  
Chairman of the Scientific Council. Fundación Ramón Areces. Spain.  

José María Medina 
Deputy Chairman of the Scientific Council. Fundación Ramón Areces. Spain. 

Fernando Larcher Laguzzi 
Coordinator of the Symposium. 

Yolanda Gilaberte 
Deputy Coordinator of the Symposium.   

Pablo Lapunzina 

Scientific Director of CIBER de Enfermedades Raras. Spain.

Keratinization disorders


Netherton syndrome: from murine models to patients

Alain Hovnanian
INSERM UMR 1163. Department of Genetics. Imagine Institute. University Paris Descartes. 
Necker Hospital. Paris. France. 


Netherton Syndrome Gene therapy Clinical Trial

Wei Li Di
University College London. Institute of Child Health. Londres. UK.  


What is new in Ichtyosis research?

Heiko Traupe
Department of Dermatology. University Hospital. Muenster. Germany. 



Skin fragility disorders


Epidermolisis Bullosa en España

María José Escámez
Rocío Maseda

CIEMAT-Universidad Carlos III de Madrid-IIS Fundación Jiménez Díaz. CIBER Rare Diseases and Pediatric Dermatology Service. Hospital Universitario La Paz. Madrid. Spain. 


Epidermolysis Bullosa and Cancer

Andrew South
Department of Dermatology and Cutaneous Biology. Jefferson University, Philadelphia. USA.


Advances in Dystrophic Epidermolysis Bullosa treatment

Fernando Larcher Laguzzi 
CIEMAT-Universidad Carlos III de Madrid-IIS Fundación Jiménez Díaz. Madrid. CIBER Rare Diseases. Madrid. Spain. 



DNA repair disorders


What is new in Xeroderma Pigmentosum research

Robert Sarkany
St. John's Institute of Dermatology. Londres. UK. 


UV-induced DNA damage repair, transcription and alternative splicing

Alberto Kornblihtt
LFBM-IFIBYNE-UBA-CONICET. Universidad de Buenos Aires. Argentina. 


Nucleotide excision repair genes in human diseases with cancer susceptibility

Jordi Surrallés
Departament of Genetics and Microbiology. Universidad Autónoma de Barcelona. 
CIBER Rare Diseases. Spain. 

Friday, 21

Ectodermal dysplasias


Ectodermal dysplasias: Clinical spectrum and genetic correlations

Smail Hadj Rabia 
Hôpital Necker Enfants Malades. Paris. France. 


Novel molecular mechanisms of glucocorticoid action: implications for treating skin diseases

Paloma Pérez
Instituto de Biomedicina de Valencia (IBV-CSIC). Spain.



Keynote conference


Next generation diagnostics for genodermatoses

John McGrath
King's College London. St John's Institute of Dermatology. Guy's Hospital. London. UK.

Vascular anomalies- cancer


Congenital vascular anomalies

Eulalia Baselga
Unidad de Dermatología Pediátrica. Hospital de la Santa Creu i Sant Pau. Barcelona. Spain.


Advances in Familiar Melanoma

Joan Anton Puig
Departament of Biochemistry and Molecular Genetics. Melanoma Unit. Hospital Clínic de Barcelona. CIBER Rare Diseases. Spain. 


Genetic susceptibility in sporadic melanoma

Eduardo Nagore
Department of Dermatology. Instituto Valenciano de Oncología. Valencia. Spain.  

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